Malignant rhabdoid tumor: Difference between revisions

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{{SK}} Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor
{{SK}} Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor


==Overview==
==Overview==
*Malignant rhabdoid tumor is one of the aggressive tumors in the pediatric population. It was originally described as a rhabdomyosarcomatoid variant of [[Wilms' tumor]], which is primarily a renal tumor.<ref name=intromalignnat1>Malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015</ref>
Malignant rhabdoid tumor is an aggressive [[tumor]] in the [[Pediatrics|pediatric]] population. It commonly starts in the [[kidney]] (rhabdoid tumor of the [[kidney]]) but it can occur in other soft tissues (extrarenal malignant rhabdoid [[tumor]]) and the [[brain]] (atypical teratoid rhabdoid tumor). It was originally believed to be a rhabdomyosarcomatoid variant of [[Wilms' tumor]] because of the cells resemblance to rhabdomyoblasts. It was later determined to be its own distinct clinicopathologic entity because the cells could not demonstrate [[myogenic]] differentiation on [[immunohistochemical]] studies. Malignant rhabdoid tumor of the [[kidney]] accounts for about 2% of all pediatric [[renal]] [[malignancies]]. The exact cause is unknown but it has been shown to be associated with the mutation of [[SMARCB1]]/INI-1 which is a [[tumor suppressor gene]]. It may be associated with conditions such as [[ependymoma]] and [[astrocytoma]]. Some of the [[histological]] characteristics of malignant rhabdoid tumor include [[eosinophilic]] [[cytoplasmic]] inclusions, [[vesicular]] [[nucleus]] with prominent [[nucleoli]], and moderate to abundant [[eosinophilic]] [[cytoplasm]]. The incidence of malignant rhabdoid tumor of the [[kidney]] is approximately 0.019 per 100,000 individuals per year in the US. Though the [[tumor]] is seen mostly in infants, some cases have been reported in adults. The [[prognosis]] is poor with the overall [[survival rate]] being low. [[Metastasis]] is a common cause of death in these patients and most of the [[Tumor|tumors]] [[metastasize]] early. Patients experience [[Symptom|symptoms]] based on the location of the [[tumor]]. Patients with [[Tumor|tumors]] in the [[liver]] may experience [[abdominal pain]], [[fever]], [[irritability]]. Those with [[Tumor|tumors]] in the [[brain]] present with [[headache]], [[ataxia]], [[nystagmus]]. [[Imaging]] modalities that may be used in the [[diagnosis]] of malignant rhabdoid tumor include [[Computed tomography|CT scan]] and [[Magnetic resonance imaging|MRI]]. They have different findings depending on the [[tumor]] location. The treatment depends on the character of the [[tumor]] and the circumstances that surround it. Some may be treated with [[Surgery|surgical excision]] and [[chemotherapy]]/[[Radiation therapy|radiotherapy]]. Some [[Tumor|tumors]] cannot be treated [[Surgery|surgically]] and may need to rely on [[chemotherapy]]. Some common [[chemotherapeutic agents]] used include [[vincristine]], [[cyclophosphamide]], [[doxorubicin]], and [[ifosfamide]].
*It comprises of 1.8% of all pediatric renal tumors in the National Wilms' Tumor Study.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
 
*Malignant rhabdoid tumor was first described as a variant of [[Wilms' tumor]] of the kidney, in 1978.
==Historical Perspective==
*Malignant rhabdoid tumor is classified into two groups: renal and extrarenal.<ref name=clssfctnmrt1>Malignant rhabdoid tumour. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Malignant_rhabdoid_tumour. Accessed on December 23, 2015</ref>
*In 1978, Beckwith and Palmar first described malignant rhabdoid [[tumor]] of the [[kidney]] as a "rhabdomyosarcomatoid variant of [[Wilms' tumor|wilms tumor]]" because the [[Cells (biology)|cells]] resembled rhabdomyoblasts. Although with further studies, it was recognized as a distinct clinicopathologic entity because of the inability to demonstrate [[myogenic]] differentiation.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="Sijmons2008">{{cite journal|last1=Sijmons|first1=Rolf H|title=Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome|journal=Hereditary Cancer in Clinical Practice|volume=6|issue=1|year=2008|pages=22|issn=1897-4287|doi=10.1186/1897-4287-6-1-22}}</ref>
*Malignant rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells.
*In 1982, Gonzalez-Crussi et al first described malignant rhabdoid [[tumor]] of the [[liver]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref><ref name="pmid7200394">{{cite journal| author=Gonzalez-Crussi F, Goldschmidt RA, Hsueh W, Trujillo YP| title=Infantile sarcoma with intracytoplasmic filamentous inclusions: distinctive tumor of possible histiocytic origin. | journal=Cancer | year= 1982 | volume= 49 | issue= 11 | pages= 2365-75 | pmid=7200394 | doi=10.1002/1097-0142(19820601)49:11<2365::aid-cncr2820491125>3.0.co;2-i | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7200394  }} </ref>
*Gene involved in the pathogenesis of malignant rhabdoid tumor include ''[[SMARCB1]]'' (''hSNF5/INI-1''), a tumor suppressor gene.
*In 1989, Rootman et al were the first to originally describe primary malignant [[tumor]] of the [[orbit]].<ref name="pmid19390226">{{cite journal| author=Kook KH, Park MS, Yim H, Lee SY, Jang JW, Grossniklaus HE| title=A case of congenital orbital malignant rhabdoid tumor: systemic metastasis following exenteration. | journal=Ophthalmologica | year= 2009 | volume= 223 | issue= 4 | pages= 274-8 | pmid=19390226 | doi=10.1159/000213643 | pmc=2988226 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19390226  }} </ref><ref name="pmid2694050">{{cite journal| author=Rootman J, Damji KF, Dimmick JE| title=Malignant rhabdoid tumor of the orbit. | journal=Ophthalmology | year= 1989 | volume= 96 | issue= 11 | pages= 1650-4 | pmid=2694050 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2694050  }} </ref>
*Malignant rhabdoid tumor is characterized by loss of the long arm of [[chromosome 22]], which results in loss of the ''hSNF5/INI-1'' gene.
 
*''INI1'', a member of the [[SWI/SNF]] chromatin remodeling complex, is important in maintenance of the mitotic spindle and cell cycle control.
==Classification==
*Malignant rhabdoid tumor may be associated with rhabdoid predisposition syndrome.<ref name=geneticsmrt1>Genetics of malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015</ref>
There is no established system for the classification of malignant rhabdoid tumor.
*Common locations associated with malignant rhabdoid tumor include:<ref name=locmagr1>Rhabdoid tumours. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 22, 2015</ref>
:*Kidney: malignant rhabdoid tumor of the kidney (most common)
:*Intracranial: [[atypical teratoid rhabdoid tumor]]
:*Soft tissues: breast, skin, orbit, liver, etc


==Pathophysiology==
==Pathophysiology==
*Malignant rhabdoid tumor is a rare and aggressive tumor commonly seen in young children. It commonly arises from the kidney but can be seen in various sites including the liver, pelvis, CNS, abdomen, heart and other soft-tissues.<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*Malignant rhabdoid tumor is a rare and aggressive [[tumor]] commonly seen in young children. It commonly arises in the [[kidney]] but can be seen in various sites including the [[liver]], [[pelvis]], [[CNS]], [[abdomen]], [[heart]] and other [[Soft tissue|soft tissues]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*Cytogenetic and molecular analyses have shown that the deletion of chromosome 22q11.2 may be associated with malignant rhabdoid tumor. Through this deletion, which is bi-allelic, the INI-1 tumor suppressor gene was discovered and its mutation is believed to contribute to the oncogenesis of renal and extrarenal malignant rhabdoid tumors.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="pmid9671307">{{cite journal| author=Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R et al.| title=Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. | journal=Nature | year= 1998 | volume= 394 | issue= 6689 | pages= 203-6 | pmid=9671307 | doi=10.1038/28212 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9671307  }} </ref>
*[[Cytogenetic]] and [[molecular]] analyses have shown that the [[Deletion (genetics)|deletion]] of [[chromosome]] 22q11.2 may be associated with the development of malignant rhabdoid tumor. Through this [[Deletion (genetics)|deletion]], which is bi-allelic, the [[SMARCB1]]/INI-1 (integrase interactor 1) [[tumor suppressor gene]] was discovered and its [[mutation]] is believed to contribute to the [[oncogenesis]] of [[renal]] and extrarenal malignant rhabdoid tumors.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="pmid9671307">{{cite journal| author=Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R et al.| title=Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. | journal=Nature | year= 1998 | volume= 394 | issue= 6689 | pages= 203-6 | pmid=9671307 | doi=10.1038/28212 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9671307  }} </ref>
*The tumors may emerge in different ways, either through tumor progression from other types of neoplasms or de novo from nonneoplastic cells. When it arises from other neoplasms with other nonrhabdoid tumor components discovered, the tumors are called composite malignant rhabdoid tumors.<ref name="pmid10809224">{{cite journal| author=Ogino S, Ro TY, Redline RW| title=Malignant rhabdoid tumor: A phenotype? An entity?--A controversy revisited. | journal=Adv Anat Pathol | year= 2000 | volume= 7 | issue= 3 | pages= 181-90 | pmid=10809224 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10809224  }} </ref>
*The [[Tumor|tumors]] may emerge in different ways, either through [[tumor]] progression from other types of [[Neoplasm|neoplasms]] or [[de novo]] from non-neoplastic [[Cell (biology)|cells]]. When it arises from other [[Neoplasm|neoplasms]] with other nonrhabdoid [[tumor]] components discovered, the [[Tumor|tumors]] are called composite malignant rhabdoid tumors.<ref name="pmid10809224">{{cite journal| author=Ogino S, Ro TY, Redline RW| title=Malignant rhabdoid tumor: A phenotype? An entity?--A controversy revisited. | journal=Adv Anat Pathol | year= 2000 | volume= 7 | issue= 3 | pages= 181-90 | pmid=10809224 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10809224  }} </ref>
*Rhabdoid tumors can arise in parts of the body outside the kidney such as the urinary bladder, gastrointestinal tract, mediastinum, liver, soft tissue, orbit, uterus, and central nervous system.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*Rhabdoid [[Tumor|tumors]] can arise in parts of the body outside the [[kidney]] such as the [[urinary bladder]], [[gastrointestinal tract]], [[mediastinum]], [[liver]], [[soft tissue]], [[Orbit (anatomy)|orbit]], [[uterus]], and [[central nervous system]]. When it arises in the [[CNS]], it is called atypical teratoid rhabdoid [[tumor]].<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*Genes involved in the pathogenesis of malignant rhabdoid tumor include SMARCB1 and INI1.<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*Conditions associated with malignant rhabdoid [[tumor]] include [[Pancreas|pancreatic]] [[neuroendocrine tumors]], [[ependymoma]], and [[astrocytoma]].<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref>
*On gross pathology, malignant rhabdoid tumor of the kidney is characterized by poorly circumscribed soft tan lesion with areas of necrosis. There may be numerous tan-gray nodules present within.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*On [[gross pathology]], malignant rhabdoid [[tumor]] of the [[kidney]] is characterized by poorly circumscribed soft tan [[lesion]] with areas of [[necrosis]]. There may be numerous tan-gray [[Nodule (medicine)|nodules]] present within.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*On microscopic histopathological analysis, malignant rhabdoid tumor is characterized by:<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*On microscopic [[Histopathology|histopathological]] analysis, malignant rhabdoid [[tumor]] is characterized by:<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
:* Round or polygonal cells
 
:* Sheets of anaplastic, noncohesive tumor cells with eccentric nuclei
:* Round or polygonal [[Cell (biology)|cells]]
:* Large, vesicular nucleus with prominent nucleoli and moderate to abundant eosinophilic cytoplasm
:* Sheets of [[anaplastic]], noncohesive [[tumor]] cells with eccentric [[nuclei]]
:* Eosinophilic, fibrillar cytoplasmic inclusions
:* Large, [[vesicular]] [[nucleus]] with prominent [[nucleoli]] and moderate to abundant [[eosinophilic]] [[cytoplasm]]
:* Intravascular tumor within adjacent soft tissues
:*[[Eosinophilic]], fibrillar [[cytoplasmic]] inclusions
* On immunohistochemical studies, malignant rhabdoid tumor cells are positive for vimentin and pancytokeratin (AE 1–3), but negative for desmin, myoglobin, and S100.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>  
:*[[Intravascular]] [[tumor]] within adjacent [[Soft tissue|soft tissues]]
*Renal malignant rhabdoid tumor must be differentiated from [[renal cell carcinoma]], [[Wilms' tumor]], mesonephric nephroma, and primitive neuroectodermal tumor of the kidney.<ref name=renalmrt1>Differential diagnosis of malignant rhabdoid tumour of the kidney. Dr Matt A. Morgan and Radswiki et al. Radioaedia 2015. http://radiopaedia.org/articles/malignant-rhabdoid-tumour-of-the-kidney. Accessed on December 23, 2015</ref>
 
*Extrarenal malignant rhabdoid tumor must be differentiated from [[desmoplastic small round cell tumor]], [[rhabdomyosarcoma]], and other soft tissue tumors.<ref name=ddxextrarebalddxmrt1>DDx of extrarenal malignant rhabdoid tumour. Libre pathology 2015. http://librepathology.org/wiki/index.php/Extrarenal_malignant_rhabdoid_tumour. Accessed on December 23, 2015</ref>
[[File:MRT histopathology.jpg|400px|thumb|left|Histopathology specimen showing atypical teratoid rhabdoid tumor [https://commons.wikimedia.org/wiki/File:Neuropathology_case_IV_03.jpg source: Jensflorian ]]]
*Almost all reported cases of malignant rhabdoid tumor, regardless of site of origin, occur in young children between birth and 2 years of age.<ref name=epimalrt1>Epidemiology of rhabdoid tumours. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 22, 2015</ref>  
<br style="clear:left" />
*In approximately 10% of cases of renal malignant rhabdoid tumor, the patients subsequently develop [[atypical teratoid rhabdoid tumor|intracranial atypical teratoid rhabdoid tumor]].
 
*Common complication of malignant rhabdoid tumor include [[hypercalcemia]], secondary to elevated parathyroid hormone levels.<ref name=sympmalrtk1>Clinical presentation of malignant rhabdoid tumour of the kidney. Dr Matt A. Morgan and Radswiki et al. Radiopaedia 2015. http://radiopaedia.org/articles/malignant-rhabdoid-tumour-of-the-kidney. Accessed on December 23, 2015</ref>
* It has a similar superficial [[Histology|histological]] resemblance with rhabdomyosarcoma with tangles of [[vimentin]] [[filaments]] in the [[eosinophilic]] [[cytoplasm]]. The difference is the absence of [[actin]] and [[myosin]] in the [[cytoplasm]] which are present in [[Tumor|tumors]] of [[myogenic]] origin.<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref>
*Prognosis is generally poor, with a reported mortality rate of patients with malignant rhabdoid tumor is 80 to 100%.<ref name="MadanBal2014">{{cite journal|last1=Madan|first1=Karan|last2=Bal|first2=Amanjit|last3=Agarwal|first3=Ritesh|last4=Das|first4=Ashim|title=Malignant Extra Renal Rhabdoid Tumour Presenting as Central Airway Obstruction|journal=Case Reports in Pulmonology|volume=2014|year=2014|pages=1–4|issn=2090-6846|doi=10.1155/2014/950869}}</ref>
* On [[Immunohistochemistry|immunohistochemical]] studies, [[malignant]] rhabdoid [[tumor]] [[Cell (biology)|cells]] are positive for [[vimentin]] and pancytokeratin (AE 1–3), but negative for [[desmin]], [[myoglobin]], and S100.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*According to the Children’s Oncology Group (COG) staging system, there are 5 stages of malignant rhabdoid tumor.
*According to the Children’s Oncology Group (COG) staging system, there are 5 stages of malignant rhabdoid tumor.{{cite web |url=https://childrensoncologygroup.org/index.php/44-patientsandfamilies/typesofchildrenscancer?start=36 |title=Types of Children's Cancer |format= |work= |accessdate=}}


{| style="border: 0px; font-size: 90%; margin: 3px; width:650px"
{| style="border: 0px; font-size: 90%; margin: 3px; width:650px"
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|}


*Symptoms of malignant rhabdoid tumor of kidney include:<ref name=sympmalrtk1>Clinical presentation of malignant rhabdoid tumour of the kidney. Dr Matt A. Morgan and Radswiki et al. Radiopaedia 2015. http://radiopaedia.org/articles/malignant-rhabdoid-tumour-of-
==Causes==
the-kidney. Accessed on December 23, 2015</ref>
There is no clear cause of malignant rhabdoid [[tumor]] but it is believed that the loss-of-function [[mutation]] of [[SMARCB1]] tumor suppression gene contributes to the [[oncogenesis]].<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref><ref name="pmid9671307">{{cite journal| author=Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R et al.| title=Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. | journal=Nature | year= 1998 | volume= 394 | issue= 6689 | pages= 203-6 | pmid=9671307 | doi=10.1038/28212 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9671307 }} </ref>
:*[[Hematuria|Blood in urine]]  
:*Flank mass
:*[[Fever]]
*Laboratory findings consistent with the diagnosis of malignant rhabdoid tumor include:<ref name="pmid25918621">{{cite journal| author=Oita S, Terui K, Komatsu S, Hishiki T, Saito T, Mitsunaga T et al.| title=Malignant rhabdoid tumor of the liver: a case report and literature review. | journal=Pediatr Rep | year= 2015 | volume= 7 | issue= 1 | pages= 5578 | pmid=25918621 | doi=10.4081/pr.2015.5578 | pmc=PMC4387326 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25918621  }} </ref>
:*Complete blood count: Reduced hemoglobin
:*Liver function test: Elevated liver enzymes
:*Urinalysis: Microscopic hematuria
:*Serum calcium measurement: Elevated serus calcium (hypercalcemia)
*CT scan may be diagnostic of malignant rhabdoid tumor. Findings on CT scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common, observed in 20-50% of cases and is typically linear and tends to outline tumur lobules.<ref name=grosspmrt1>Radiographic features of malignant rhabdoid tumor of the kidney. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 23, 2015</ref>
*The predominant therapy for malignant rhabdoid tumor is surgical resection. Adjunctive chemotherapy may be required.<ref name=cjhjh>How is malignant rhabdoid tumor treated? Dana-Farber and Boston Children's Cancer and Blood Disorder's Center 2015. http://www.danafarberbostonchildrens.org/conditions/solid-tumors/malignant-rhabdoid-tumor.aspx. Accessed on December 28, 2015</ref>
 
==Historical Perspective==
*In 1978, Beckwith and Palmar described malignant rhabdoid tumor of the kidney as a "rhabdomyosarcomatoid variant of wilms tumor" because the cells resembled rhabdomyoblasts. Although with further studies, it was recognized as a distinct clinicopathologic entity because of the inability to demonstrate myogenic differentiation.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*In 1982, Gonzalez-Crussi et al first described malignant rhabdoid tumor of the liver.<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref><ref name="pmid7200394">{{cite journal| author=Gonzalez-Crussi F, Goldschmidt RA, Hsueh W, Trujillo YP| title=Infantile sarcoma with intracytoplasmic filamentous inclusions: distinctive tumor of possible histiocytic origin. | journal=Cancer | year= 1982 | volume= 49 | issue= 11 | pages= 2365-75 | pmid=7200394 | doi=10.1002/1097-0142(19820601)49:11<2365::aid-cncr2820491125>3.0.co;2-i | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7200394  }} </ref>
*In 1989, Rootman et al were the first to originally describe primary malignant tumor of the orbit.<ref name="pmid19390226">{{cite journal| author=Kook KH, Park MS, Yim H, Lee SY, Jang JW, Grossniklaus HE| title=A case of congenital orbital malignant rhabdoid tumor: systemic metastasis following exenteration. | journal=Ophthalmologica | year= 2009 | volume= 223 | issue= 4 | pages= 274-8 | pmid=19390226 | doi=10.1159/000213643 | pmc=2988226 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19390226  }} </ref><ref name="pmid2694050">{{cite journal| author=Rootman J, Damji KF, Dimmick JE| title=Malignant rhabdoid tumor of the orbit. | journal=Ophthalmology | year= 1989 | volume= 96 | issue= 11 | pages= 1650-4 | pmid=2694050 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2694050 }} </ref>


==Differentiating Malignant Rhabdoid Tumor from Other Diseases==
==Differentiating Malignant Rhabdoid Tumor from Other Diseases==
Line 194: Line 175:
}}</ref>
}}</ref>
{| class="wikitable"
{| class="wikitable"
! rowspan="2" |S.No.
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |S.No.
! rowspan="2" |Disease
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Disease
! colspan="3" |Symptoms
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Symptoms
! colspan="2" |Signs
! colspan="2" style="background:#4479BA; color: #FFFFFF;" + |Signs
! colspan="3" |Diagnosis
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Diagnosis
! rowspan="2" |Comments
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Comments
|-
|-
!Abdominal Pain
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal Pain
!Hematuria
! style="background:#4479BA; color: #FFFFFF;" + |Hematuria
!Headache
! style="background:#4479BA; color: #FFFFFF;" + |Headache
!Abdominal mass
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal mass
!Abdominal tenderness
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal tenderness
!Ultrasonography
! style="background:#4479BA; color: #FFFFFF;" + |Ultrasonography
!CT scan
! style="background:#4479BA; color: #FFFFFF;" + |CT scan
!Histology
! style="background:#4479BA; color: #FFFFFF;" + |Histology
|-
|-
|1.
|1.
|[[Rhabdoid tumor of the kidney]]
|  +
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|
*[[Ultrasound]] shows a lobulated [[mass]] with [[heterogeneous]] [[echogenicity]].
|
*[[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common.
|
*[[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures.
|
|-
|2.
|[[Wilms' tumor|Wilms tumor]]
|[[Wilms' tumor|Wilms tumor]]
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
Line 249: Line 245:
|
|
|-
|-
|2.
|3.
|[[Renal cell carcinoma]]
|[[Renal cell carcinoma]]
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
Line 260: Line 256:
|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a.
|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a.
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma.
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma.
|
|-
|3.
|[[Malignant rhabdoid tumor|Rhabdoid kidney disease]]
| +
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|
* [[Ultrasound]] shows a complex cystic mass.
|
* [[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common, observed in 20-50% of cases and is typically linear and tends to outline tumor [[lobules]].
|
* [[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures.
|
|
|-
|-
Line 310: Line 291:
* CT is the preferred imaging modality for the diagnosis of pheochromocytoma.
* CT is the preferred imaging modality for the diagnosis of pheochromocytoma.
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652  }}</ref>
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652  }}</ref>
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490  }}</ref>
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490  }}</ref>


Line 472: Line 454:


==Epidemiology and Demographics==
==Epidemiology and Demographics==
*Although malignant rhabdoid tumors usually affect children, some cases in adults have been reported with the age at diagnosis ranging from 32 to 60 years.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*The [[incidence]] of malignant rhabdoid tumor of the [[kidney]] is approximately 0.019 per 100,000 individuals per year in the US. That of atypical teratoid/rhabdoid [[tumor]] is 0.089 per 100,000 per year, and 0.032 per 1000,000 yearly for the [[Tumor|tumors]] found in other sites.<ref name="pmid22434719">{{cite journal| author=Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B| title=Epidemiology of rhabdoid tumors of early childhood. | journal=Pediatr Blood Cancer | year= 2013 | volume= 60 | issue= 1 | pages= 77-81 | pmid=22434719 | doi=10.1002/pbc.24141 | pmc=3399923 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22434719  }} </ref>
*Malignant rhabdoid tumor of the [[kidney]] accounts for about 2% of all [[Pediatrics|pediatric]] [[renal]] [[malignancies]].<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref>
*The [[mortality rate]] of malignant rhabdoid tumor is approximately 80%.<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref>
*It mostly occur in infants. The median reported age is about 22.5 months.<ref name="pmid21775180">{{cite journal| author=Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V et al.| title=Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. | journal=Ann Diagn Pathol | year= 2012 | volume= 16 | issue= 6 | pages= 504-7 | pmid=21775180 | doi=10.1016/j.anndiagpath.2011.04.008 | pmc=3448015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21775180  }} </ref>
*Although malignant rhabdoid tumors usually affect children, some cases in adults have been reported with the age at [[diagnosis]] ranging from 32 to 60 years.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*It affects females and males equally.<ref name="pmid22434719">{{cite journal| author=Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B| title=Epidemiology of rhabdoid tumors of early childhood. | journal=Pediatr Blood Cancer | year= 2013 | volume= 60 | issue= 1 | pages= 77-81 | pmid=22434719 | doi=10.1002/pbc.24141 | pmc=3399923 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22434719  }} </ref>
 
==Risk Factors==
There are no established [[Risk factor|risk factors]] for malignant rhabdoid tumor.<ref name="HorazdovskyManivel2013">{{cite journal|last1=Horazdovsky|first1=Ryan|last2=Manivel|first2=J. Carlos|last3=Cheng|first3=Edward Y.|title=Surgery and Actinomycin Improve Survival in Malignant Rhabdoid Tumor|journal=Sarcoma|volume=2013|year=2013|pages=1–8|issn=1357-714X|doi=10.1155/2013/315170}}</ref>
 
==Screening==
There is insufficient evidence to recommend routine screening for malignant rhabdoid tumor.


==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==
* Malignant rhabdoid tumor may easily metastasize to other parts of the body.
* Malignant rhabdoid tumors are prone to [[metastasize]] early with [[metastasis]] being the most common cause of death among patients. Most cases may have already [[metastasized]] before the [[diagnosis]] is made.<ref name="pmid21775180">{{cite journal| author=Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V et al.| title=Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. | journal=Ann Diagn Pathol | year= 2012 | volume= 16 | issue= 6 | pages= 504-7 | pmid=21775180 | doi=10.1016/j.anndiagpath.2011.04.008 | pmc=3448015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21775180  }} </ref><ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref>
* Common complications of malignant rhabdoid tumor include spontaneous tumor rupture.<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*In most cases, patients die at an average of 6 months after [[diagnosis]].<ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue=  | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301  }} </ref>
* Thrombotic pulmonary microangiopathy (pulmonary tumor embolism syndrome) may be seen in adults patients with metastasis to the lungs.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
* Common complications of malignant rhabdoid tumor include spontaneous [[tumor]] rupture and [[Thrombotic occlusion|thrombotic]] [[pulmonary]] [[microangiopathy]] ([[pulmonary]] [[tumor]] [[embolism]] [[syndrome]]) which may be seen in adult patients with [[metastasis]] to the [[Lung|lungs]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref><ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref>
*The overall survival rate ranges from about 22% to 42%.<ref name="pmid28843054">{{cite journal| author=Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N et al.| title=High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. | journal=Pediatr Blood Cancer | year= 2018 | volume= 65 | issue= 1 | pages=  | pmid=28843054 | doi=10.1002/pbc.26746 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28843054  }} </ref>
*The 5-year [[survival rate]] of malignant rhabdoid tumor is 33%.<ref name="pmid22434719">{{cite journal| author=Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B| title=Epidemiology of rhabdoid tumors of early childhood. | journal=Pediatr Blood Cancer | year= 2013 | volume= 60 | issue= 1 | pages= 77-81 | pmid=22434719 | doi=10.1002/pbc.24141 | pmc=3399923 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22434719 }} </ref>
*In adults, the prognosis is poor with the survival time after diagnosis being only a few months.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*The overall [[survival rate]] ranges from between 22% to 42%.<ref name="pmid28843054">{{cite journal| author=Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N et al.| title=High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. | journal=Pediatr Blood Cancer | year= 2018 | volume= 65 | issue= 1 | pages=  | pmid=28843054 | doi=10.1002/pbc.26746 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28843054  }} </ref>
*Factors associated with significantly reduced survival include metastases/multifocal disease, younger age, infratentorial location, and less than complete remission at the end of chemotherapy.<ref name="pmid28843054">{{cite journal| author=Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N et al.| title=High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. | journal=Pediatr Blood Cancer | year= 2018 | volume= 65 | issue= 1 | pages=  | pmid=28843054 | doi=10.1002/pbc.26746 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28843054  }} </ref><ref name="pmid21796761">{{cite journal| author=von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N et al.| title=Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 6 | pages= 978-85 | pmid=21796761 | doi=10.1002/pbc.23236 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21796761  }} </ref>
*In adults, the [[prognosis]] is poor with the survival time after [[diagnosis]] being only a few months.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*Neither tumor volume at diagnosis nor pre-operative chemosensitivity affects the outcome.<ref name="pmid21370404">{{cite journal| author=van den Heuvel-Eibrink MM, van Tinteren H, Rehorst H, Coulombe A, Patte C, de Camargo B et al.| title=Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. | journal=Pediatr Blood Cancer | year= 2011 | volume= 56 | issue= 5 | pages= 733-7 | pmid=21370404 | doi=10.1002/pbc.22922 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21370404  }} </ref>
*Factors associated with significantly reduced survival include [[Metastasis|metastases]]/multifocal disease, younger age, [[infratentorial]] location, and less than complete remission at the end of [[chemotherapy]].<ref name="pmid28843054">{{cite journal| author=Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N et al.| title=High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. | journal=Pediatr Blood Cancer | year= 2018 | volume= 65 | issue= 1 | pages=  | pmid=28843054 | doi=10.1002/pbc.26746 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28843054  }} </ref><ref name="pmid21796761">{{cite journal| author=von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N et al.| title=Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 6 | pages= 978-85 | pmid=21796761 | doi=10.1002/pbc.23236 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21796761  }} </ref>
*Neither [[tumor]] volume at [[diagnosis]] nor pre-operative chemosensitivity affects the outcome.<ref name="pmid21370404">{{cite journal| author=van den Heuvel-Eibrink MM, van Tinteren H, Rehorst H, Coulombe A, Patte C, de Camargo B et al.| title=Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. | journal=Pediatr Blood Cancer | year= 2011 | volume= 56 | issue= 5 | pages= 733-7 | pmid=21370404 | doi=10.1002/pbc.22922 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21370404  }} </ref>


==Diagnosis==
==Diagnosis==
===Diagnostic Study of Choice===
* The [[diagnosis]] of malignant rhabdoid tumor is based on characteristic [[histopathological]] features, which include large oval to polygonal [[Cell (biology)|cells]] with abundant [[eosinophilic]] [[cytoplasm]], large [[vesicular]] [[nuclei]] with prominent [[nucleoli]], and conspicuous [[filamentous]] [[cytoplasmic]] inclusions.<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref>
*[[Immunohistochemistry]] is important in the [[diagnosis]] of malignant rhabdoid tumor. The [[tumor]] has a positive immunoreactivity for [[vimentin]], [[cytokeratin]] and [[epithelial]] [[membrane]] [[antigen]]. The [[tumor]] is usually positive for [[vimentin]] with that of [[cytokeratin]] and [[Epithelium|epithelial]] [[membrane]] [[antigen]] being variable. it's negative immunoreactivity for [[muscle]] markers, histiocytic markers, [[HMB-45]], and S100 [[protein]] helps to exclude [[myogenic]] and histiocytic [[Neoplasm|neoplasms]] and [[malignant melanoma]].<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref>
===History and Symptoms===
===History and Symptoms===
*A positive history of fever, abdominal distension is suggestive of malignant rhabdoid tumor of the liver.<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*Patients with malignant rhabdoid tumor of the [[kidney]] may have a positive history of [[fatigue]] and [[abdominal distension]].<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
*Common symptoms of malignant rhabdoid tumor of the liver include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*A positive history of [[fever]] and [[abdominal distension]] is suggestive of malignant rhabdoid tumor of the [[liver]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
:* Irritability
*Common [[symptoms]] of malignant rhabdoid tumor of the [[kidney]] include:<ref name="SislerSiegel1989">{{cite journal|last1=Sisler|first1=C L|last2=Siegel|first2=M J|title=Malignant rhabdoid tumor of the kidney: radiologic features.|journal=Radiology|volume=172|issue=1|year=1989|pages=211–212|issn=0033-8419|doi=10.1148/radiology.172.1.2544921}}</ref>
 
:*[[Vomiting]]
 
*Common [[symptoms]] of malignant rhabdoid tumor of the [[liver]] include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
 
:*[[Irritability]]
:* Reluctance to eat
:* Reluctance to eat
:* Fever
:*[[Fever]]
:* Abdominal pain
:*[[Abdominal pain]]
*Common symptoms of malignant rhabdoid tumor of the orbit include:
 
:* Proptosis
*Common [[symptoms]] of malignant rhabdoid tumor of the [[Orbit (anatomy)|orbit]] include [[proptosis]].<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref>
*Common [[symptoms]] of malignant rhabdoid tumor of the [[Urinary bladder|bladder]] include:<ref name="pmid21775180">{{cite journal| author=Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V et al.| title=Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. | journal=Ann Diagn Pathol | year= 2012 | volume= 16 | issue= 6 | pages= 504-7 | pmid=21775180 | doi=10.1016/j.anndiagpath.2011.04.008 | pmc=3448015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21775180  }} </ref>
 
:*[[Blood in urine]]
:*[[Weight loss]]
:*[[Decreased appetite]]
 
*Common [[symptoms]] of malignant rhabdoid tumor of the [[head]] (atypical teratoid/rhabdoid tumor) include:<ref name="pmid27695363">{{cite journal| author=Biswas A, Kashyap L, Kakkar A, Sarkar C, Julka PK| title=Atypical teratoid/rhabdoid tumors: challenges and search for solutions. | journal=Cancer Manag Res | year= 2016 | volume= 8 | issue=  | pages= 115-125 | pmid=27695363 | doi=10.2147/CMAR.S83472 | pmc=5033212 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27695363  }} </ref>
 
:*[[Headache]]
:*[[Vomiting]]
:*[[Lethargy]]
:*[[Failure to thrive]]
:* Regression of [[developmental milestones]]
:*[[Irritability]]
:*[[Macrocephaly]]
:*[[Ataxia]]
:*[[Nystagmus]]
:*[[Cranial nerve palsies]]
 
===Physical Examination===
* The [[physical examination]] findings according to the location of the [[tumor]] include:<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref><ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue=  | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301  }} </ref><ref name="SislerSiegel1989">{{cite journal|last1=Sisler|first1=C L|last2=Siegel|first2=M J|title=Malignant rhabdoid tumor of the kidney: radiologic features.|journal=Radiology|volume=172|issue=1|year=1989|pages=211–212|issn=0033-8419|doi=10.1148/radiology.172.1.2544921}}</ref><ref name="pmid27695363">{{cite journal| author=Biswas A, Kashyap L, Kakkar A, Sarkar C, Julka PK| title=Atypical teratoid/rhabdoid tumors: challenges and search for solutions. | journal=Cancer Manag Res | year= 2016 | volume= 8 | issue=  | pages= 115-125 | pmid=27695363 | doi=10.2147/CMAR.S83472 | pmc=5033212 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27695363  }} </ref>
 
:* Malignant rhabdoid tumor of the [[Orbit (anatomy)|orbit]]: [[Dilated pupils]] and [[proptosis]].
:* Malignant rhabdoid tumor of the [[liver]]: [[Right upper quadrant]] [[tenderness]] and [[hepatomegaly]].
:* Malignant rhabdoid tumor of the [[kidney]]: Palpable [[abdominal mass]] and [[hypertension]].
:* Atypical teratoid/rhabdoid tumor: [[Ataxia]], [[nystagmus]], [[cranial nerve palsies]].
 
===Laboratory Findings===
* Depending on the location of the [[tumor]], there may be different lab findings in patients. The lab findings that may be seen according to the location of the [[tumor]] include:<ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue=  | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301  }} </ref><ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref><ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576  }} </ref>
 
:* Malignant rhabdoid tumor of the [[kidney]]: [[Microscopic hematuria]], [[leukocytosis]], decreased [[hemoglobin]] and [[hematocrit]], elevated [[Blood urea nitrogen|BUN]] and [[creatinine]], and [[hypercalcemia]] (due to elevated [[parathormone]] levels).
:* Malignant rhadoid tumor of the [[liver]]: elevated lactose dehydrogenase.
 
===Electrocardiogram===
* There are no [[ECG]] findings associated with malignant rhabdoid tumor.
 
===X-ray===
There are no [[x-ray]] findings associated with malignant rhabdoid tumor.


===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===
*Ultrasound may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on an ultrasound suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*Ultrasound may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on an [[ultrasound]] suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref>
:* Presence of hyperechoic lesions in the liver
 
:* A lobulated [[mass]] with [[heterogeneous]] [[echogenicity]] that may be due to [[hemorrhage]], [[necrosis]], fat, or [[calcification]].


===CT Scan===
===CT Scan===
*Abdominal CT scan may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on CT scan suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*[[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of malignant rhabdoid tumor. Findings on [[Computed tomography|CT scan]] suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref><ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref><ref name="SislerSiegel1989">{{cite journal|last1=Sisler|first1=C L|last2=Siegel|first2=M J|title=Malignant rhabdoid tumor of the kidney: radiologic features.|journal=Radiology|volume=172|issue=1|year=1989|pages=211–212|issn=0033-8419|doi=10.1148/radiology.172.1.2544921}}</ref>
:* Homogenously hypodense lesion/lesions in the liver
 
:*[[Homogenous|Homogenously]] hypodense lesion/lesions in the [[liver]]
:* Ill-defined [[homogeneous]] [[mass]] filling the intraconal space (MRT of the [[Orbit (anatomy)|orbit]])
:*[[Soft tissue]] [[mass]] that may compress the underlying normal [[Kidney|renal]] [[parenchyma]]
:* Fluid accumulation and peripheral [[nodules]] in the subcapsular space
 
* After the [[diagnosis]] of malignant rhabdoid tumor in a patient, further [[imaging]] of other parts of the [[chest]], [[liver]], [[brain]], and other parts of the body is recommended in order to search for distant [[metastasis]].<ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue=  | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301  }} </ref>


===MRI===
===MRI===
*Abdominal MRI may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on MRI suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
*[[Abdominal]] [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of malignant rhabdoid tumor. Findings on [[Magnetic resonance imaging|MRI]] suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983  }} </ref>
:* Hypointense lesions on T1-weighted (W) and hyperintense on T2-W images
 
:* A lobulated [[mass]] with hypointense [[Lesion|lesions]] on T1-weighted (W) and hyperintense on T2-W images
[[File:ATRT-MRI v2.jpg|400px|thumb|left|MRI showing supratentorial atypical teratoid/rhabdoid tumor (ATRT) in a young child [https://commons.wikimedia.org/wiki/File:ATRT-MRI.jpg source:Marvin 101 ]]]
<br style="clear:left" />
 
===Other Imaging Findings===
There are no other [[imaging]] findings associated with malignant rhabdoid tumor.
 
===Other Diagnostic Findings===
There are no other diagnostic studies associated with malignant rhabdoid tumor.


==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
* Malignant rhaboid tumor of the liver may be treated with complete tumor resection and aggressive chemotherapy. The chemotherapeutic agents used could be ifosfamide alone or in combination with carboplatin and etoposide alternating with vincristine, adriamycin, and cyclophosphamide at three weeks interval. MRT of the liver is known to be fatal and resistant to multimodal therapy. In cases where the tumor is unresectable, a liver transplant may be done.<ref name="pmid21744471">{{cite journal| author=Trobaugh-Lotrario AD, Finegold MJ, Feusner JH| title=Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 3 | pages= 423-8 | pmid=21744471 | doi=10.1002/pbc.22857 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21744471  }} </ref><ref name="pmid17551403">{{cite journal| author=Jayaram A, Finegold MJ, Parham DM, Jasty R| title=Successful management of rhabdoid tumor of the liver. | journal=J Pediatr Hematol Oncol | year= 2007 | volume= 29 | issue= 6 | pages= 406-8 | pmid=17551403 | doi=10.1097/MPH.0b013e3180601011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17551403  }} </ref><ref name="pmid12378463">{{cite journal| author=Ravindra KV, Cullinane C, Lewis IJ, Squire BR, Stringer MD| title=Long-term survival after spontaneous rupture of a malignant rhabdoid tumor of the liver. | journal=J Pediatr Surg | year= 2002 | volume= 37 | issue= 10 | pages= 1488-90 | pmid=12378463 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12378463  }} </ref>
* There is no precise/exact treatment for malignant rhabdoid tumor.<ref name="WarrenOxley2014">{{cite journal|last1=Warren|first1=Katherine Sarah|last2=Oxley|first2=Jon|last3=Koupparis|first3=Anthony|title=Pure malignant rhabdoid tumour of the bladder|journal=Canadian Urological Association Journal|volume=8|issue=3-4|year=2014|pages=260|issn=1920-1214|doi=10.5489/cuaj.1633}}</ref>
* Malignant rhabdoid tumor of the orbit may be treated with chemotherapeutic agents such as ifosfamide, carboplatin, and etoposide. This may be combined with surgical resection or used to reduce the tumor size before the use of gamma knife radiation.
* The [[chemotherapeutic agents]] used in the treatment of malignant rhabdoid tumor of the [[liver]] could be [[ifosfamide]] alone or in combination with [[carboplatin]] and [[etoposide]] alternating with [[vincristine]], [[adriamycin]], and [[cyclophosphamide]] at three weeks interval. MRT of the [[liver]] is known to be fatal and resistant to multimodal therapy.<ref name="pmid21744471">{{cite journal| author=Trobaugh-Lotrario AD, Finegold MJ, Feusner JH| title=Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 3 | pages= 423-8 | pmid=21744471 | doi=10.1002/pbc.22857 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21744471  }} </ref><ref name="pmid17551403">{{cite journal| author=Jayaram A, Finegold MJ, Parham DM, Jasty R| title=Successful management of rhabdoid tumor of the liver. | journal=J Pediatr Hematol Oncol | year= 2007 | volume= 29 | issue= 6 | pages= 406-8 | pmid=17551403 | doi=10.1097/MPH.0b013e3180601011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17551403  }} </ref><ref name="pmid12378463">{{cite journal| author=Ravindra KV, Cullinane C, Lewis IJ, Squire BR, Stringer MD| title=Long-term survival after spontaneous rupture of a malignant rhabdoid tumor of the liver. | journal=J Pediatr Surg | year= 2002 | volume= 37 | issue= 10 | pages= 1488-90 | pmid=12378463 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12378463  }} </ref>
* Malignant rhabdoid tumor of the [[Orbit (anatomy)|orbit]] may be treated with [[chemotherapeutic agents]] such as [[ifosfamide]], [[carboplatin]], and [[etoposide]]. This may be combined with [[surgical resection]] or used to reduce the [[tumor]] size before the use of gamma knife radiation.<ref name="BiswasKashyap2016">{{cite journal|last1=Biswas|first1=Ahitagni|last2=Kashyap|first2=Lakhan|last3=Kakkar|first3=Aanchal|last4=Sarkar|first4=Chitra|last5=Julka|first5=Pramod|title=Atypical teratoid/rhabdoid tumors: challenges and search for solutions|journal=Cancer Management and Research|volume=Volume 8|year=2016|pages=115–125|issn=1179-1322|doi=10.2147/CMAR.S83472}}</ref>
* The children's [[oncology]] group developed a protocol for the treatment of malignant rhabdoid [[tumor]] which has also been used to treat [[Tumor|tumors]] in different locations. The [[chemotherapy]] protocol includes the use of [[vincristine]], [[cyclophosphamide]], and [[doxorubicin]] (VDCPM1) at weeks 1, 7, 13, 19, and 25, and [[cyclophosphamide]], [[carboplatin]], and [[etoposide]] (CPM5+CE) at weeks 4, 10, 16, 22, and 28.<ref name="DuanZheng2018">{{cite journal|last1=Duan|first1=Chao|last2=Zheng|first2=Lei|last3=Zhang|first3=Dawei|last4=Jin|first4=Mei|last5=Su|first5=Yan|last6=Zhao|first6=Wen|last7=Wang|first7=Xisi|last8=Zhao|first8=Qian|last9=Huang|first9=Cheng|last10=Zhang|first10=Jie|last11=Zhang|first11=Jianguo|last12=Ni|first12=Xin|last13=Ma|first13=Xiaoli|title=Treatment of malignant rhabdoid tumors of the head and neck with combined chemotherapy and 125
I particle implantation|journal=Pediatric Investigation|volume=2|issue=1|year=2018|pages=53–55|issn=25742272|doi=10.1002/ped4.12025}}</ref>
* Patients may experience [[side effects]] such as [[anemia]], [[neutropenia]], [[thrombocytopenia]], and [[Infection|infections]].<ref name="DuanZheng2018">{{cite journal|last1=Duan|first1=Chao|last2=Zheng|first2=Lei|last3=Zhang|first3=Dawei|last4=Jin|first4=Mei|last5=Su|first5=Yan|last6=Zhao|first6=Wen|last7=Wang|first7=Xisi|last8=Zhao|first8=Qian|last9=Huang|first9=Cheng|last10=Zhang|first10=Jie|last11=Zhang|first11=Jianguo|last12=Ni|first12=Xin|last13=Ma|first13=Xiaoli|title=Treatment of malignant rhabdoid tumors of the head and neck with combined chemotherapy and 125
I particle implantation|journal=Pediatric Investigation|volume=2|issue=1|year=2018|pages=53–55|issn=25742272|doi=10.1002/ped4.12025}}</ref>


===Surgery===
===Surgery===
* Malignant rhabdoid tumor can be treated [[Surgery|surgically]].<ref name="SterlingLong2015">{{cite journal|last1=Sterling|first1=Matthew E.|last2=Long|first2=Christopher J.|last3=Bosse|first3=Kristopher R.|last4=Bagatell|first4=Rochelle|last5=Shukla|first5=Aseem R.|title=A Rapid Progression of Disease After Surgical Excision of a Malignant Rhabdoid Tumor of the Bladder|journal=Urology|volume=85|issue=3|year=2015|pages=664–666|issn=00904295|doi=10.1016/j.urology.2014.11.011}}</ref>
* Depending on the location and character of the [[tumor]], complete [[tumor]] [[resection]] can be pursued as in cases of malignant rhabdoid tumor of the [[liver]]. In cases where the [[tumor]] is not resectable, a [[liver transplant]] may be done. When located in the [[kidney]], a [[nephrectomy]] may be done, and may be followed by [[chemotherapy]] and/or [[radiation therapy]].<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref><ref name="pmid21744471">{{cite journal| author=Trobaugh-Lotrario AD, Finegold MJ, Feusner JH| title=Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 3 | pages= 423-8 | pmid=21744471 | doi=10.1002/pbc.22857 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21744471  }} </ref><ref name="pmid17551403">{{cite journal| author=Jayaram A, Finegold MJ, Parham DM, Jasty R| title=Successful management of rhabdoid tumor of the liver. | journal=J Pediatr Hematol Oncol | year= 2007 | volume= 29 | issue= 6 | pages= 406-8 | pmid=17551403 | doi=10.1097/MPH.0b013e3180601011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17551403  }} </ref><ref name="pmid12378463">{{cite journal| author=Ravindra KV, Cullinane C, Lewis IJ, Squire BR, Stringer MD| title=Long-term survival after spontaneous rupture of a malignant rhabdoid tumor of the liver. | journal=J Pediatr Surg | year= 2002 | volume= 37 | issue= 10 | pages= 1488-90 | pmid=12378463 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12378463  }} </ref>
* Some [[Tumor|tumors]] cannot be operated on due to the location. These [[Tumor|tumors]] may be treated with [[chemotherapy]] and/or [[Radiation therapy|radiotherapy]].<ref name="NgToe2019">{{cite journal|last1=Ng|first1=Wing Ki|last2=Toe|first2=Boon Ping|last3=Lau|first3=Hin Yue|title=Malignant Rhabdoid Tumor of the Mediastinum: A Case Report and Literature Review|journal=Journal of Clinical Imaging Science|volume=9|year=2019|pages=7|issn=2156-7514|doi=10.25259/JCIS-9-7}}</ref>
* Malignant rhabdoid tumor is an aggressive [[tumor]] that can recur even after [[Surgical resection|surgical excision]] and [[chemotherapy]]. Most patients die from [[tumor]] invasion and [[metastasis]].<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref>
===Primary Prevention===
There are no established measures for the [[primary prevention]] of malignant rhabdoid tumor.
===Secondary Prevention===
There are no established measures for the [[secondary prevention]] of malignant rhabdoid tumor.


==References==
==References==

Latest revision as of 15:44, 19 November 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Ifeoma Odukwe, M.D. [2], Sujit Routray, M.D. [3]

Synonyms and keywords: Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor

Overview

Malignant rhabdoid tumor is an aggressive tumor in the pediatric population. It commonly starts in the kidney (rhabdoid tumor of the kidney) but it can occur in other soft tissues (extrarenal malignant rhabdoid tumor) and the brain (atypical teratoid rhabdoid tumor). It was originally believed to be a rhabdomyosarcomatoid variant of Wilms' tumor because of the cells resemblance to rhabdomyoblasts. It was later determined to be its own distinct clinicopathologic entity because the cells could not demonstrate myogenic differentiation on immunohistochemical studies. Malignant rhabdoid tumor of the kidney accounts for about 2% of all pediatric renal malignancies. The exact cause is unknown but it has been shown to be associated with the mutation of SMARCB1/INI-1 which is a tumor suppressor gene. It may be associated with conditions such as ependymoma and astrocytoma. Some of the histological characteristics of malignant rhabdoid tumor include eosinophilic cytoplasmic inclusions, vesicular nucleus with prominent nucleoli, and moderate to abundant eosinophilic cytoplasm. The incidence of malignant rhabdoid tumor of the kidney is approximately 0.019 per 100,000 individuals per year in the US. Though the tumor is seen mostly in infants, some cases have been reported in adults. The prognosis is poor with the overall survival rate being low. Metastasis is a common cause of death in these patients and most of the tumors metastasize early. Patients experience symptoms based on the location of the tumor. Patients with tumors in the liver may experience abdominal pain, fever, irritability. Those with tumors in the brain present with headache, ataxia, nystagmus. Imaging modalities that may be used in the diagnosis of malignant rhabdoid tumor include CT scan and MRI. They have different findings depending on the tumor location. The treatment depends on the character of the tumor and the circumstances that surround it. Some may be treated with surgical excision and chemotherapy/radiotherapy. Some tumors cannot be treated surgically and may need to rely on chemotherapy. Some common chemotherapeutic agents used include vincristine, cyclophosphamide, doxorubicin, and ifosfamide.

Historical Perspective

  • In 1978, Beckwith and Palmar first described malignant rhabdoid tumor of the kidney as a "rhabdomyosarcomatoid variant of wilms tumor" because the cells resembled rhabdomyoblasts. Although with further studies, it was recognized as a distinct clinicopathologic entity because of the inability to demonstrate myogenic differentiation.[1][2]
  • In 1982, Gonzalez-Crussi et al first described malignant rhabdoid tumor of the liver.[3][4]
  • In 1989, Rootman et al were the first to originally describe primary malignant tumor of the orbit.[5][6]

Classification

There is no established system for the classification of malignant rhabdoid tumor.

Pathophysiology

Histopathology specimen showing atypical teratoid rhabdoid tumor source: Jensflorian


  • It has a similar superficial histological resemblance with rhabdomyosarcoma with tangles of vimentin filaments in the eosinophilic cytoplasm. The difference is the absence of actin and myosin in the cytoplasm which are present in tumors of myogenic origin.[9]
  • On immunohistochemical studies, malignant rhabdoid tumor cells are positive for vimentin and pancytokeratin (AE 1–3), but negative for desmin, myoglobin, and S100.[1]
  • According to the Children’s Oncology Group (COG) staging system, there are 5 stages of malignant rhabdoid tumor."Types of Children's Cancer".
Staging Characteristic findings

Stage I

  • Tumor is involving single kidney and its completely resectable. behind. No tumor mass left behind. Renal capsule isn't breached by surgery. Blood vessels are not involved.

Stage II

  • Tumor invades beyond the renal capsule into the neighboring fatty tissue or blood vessels, but its completely resectable. No tumor mass left behind. Abdominal or pelvic lymph nodes are tumor-free.

Stage III

  • Tumor mass that is not completely resectable. Residual tumor is confined to the abdomen. One or more features that may be present that include:
    • Tumor involves abdominal and pelvic lymph nodes
    • Tumor invades the nearby vital structures
    • Tumor implants deposited on the peritoneal surface
    • Spillage of the tumor into th peritoneal cavity before or after surgery
    • Separate excision of the tumor at multiple sites (e.g., kidney and adrenals)
    • Pre-operative biopsy is done

Stage IV

  • Hematogenous spread of the tumor to distant organs such as lung, brain, bones, liver, or to the distant lymph node meetastasis

Stage V

  • Tumor observed in bilateral kidneys

Causes

There is no clear cause of malignant rhabdoid tumor but it is believed that the loss-of-function mutation of SMARCB1 tumor suppression gene contributes to the oncogenesis.[1][7]

Differentiating Malignant Rhabdoid Tumor from Other Diseases

Malignant rhabdoid tumor of the kidney should be differentiated from other diseases that present with hemeturia, abdominal pain and abdominal mass. The following are the differentials:[10][11][12][13][14][15][16][17][18]

S.No. Disease Symptoms Signs Diagnosis Comments
Abdominal Pain Hematuria Headache Abdominal mass Abdominal tenderness Ultrasonography CT scan Histology
1. Rhabdoid tumor of the kidney + + - + -
  • CT scan may be diagnostic of malignant rhabdoid tumor. Findings on CT scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous hemorrhage or necrosis. Enhancement is similarly heterogeneous. Calcification is relatively common.
  • Malignant rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.
2. Wilms tumor + + - + +
  • Wilms tumor has a triphasic appearance.
  • It is comprised of 3 types of cells:
  • All the 3 types are not required for the diagnosis of Wilms tumor.
  • Primitive tubules and glomeruli are often seen comprised of neoplastic cells.
  • Beckwith and Palmer reported in NWTS the different histopathologic types of Wilms tumor to categorize them based on prognosis.[22]
3. Renal cell carcinoma + + +/- + -
  • Ultrasound (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell carcinomas are detectable on ultrasound.
Both CT and MRI may be used to detect neoplastic masses that may define renal cell carcinoma or metastasis of the primary cancer. CT scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with renal cell carcinoma. The histological pattern of renal cell carcinoma depends whether it is papillary, chromophobe or collecting duct renal cell carcinoma.
4. Polycystic kidney disease + + + (from hypertension) + -

Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:[23][24]

  • At least three unilateral or bilateral cysts in patients 15 - 39 years old
  • Atleast two cysts in each kidney in patients 40 - 59 years old
  • Atleast four cysts in each kidney in patients 60 years of age or older

Renal CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:

  • Numerous renal cysts of varying size and shape with little intervening parenchyma with water attenuation and very thin wall.
  • Reduction in sinus fat due to expansion of the cortex
  • Occasional complex cysts with hyperdense appearance, with possible septations or calcifications
  • Multiple homogeneous and hypoattenuating cystic lesions in the liver in patients with liver involvement
  • On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.[25][26][27][28]
5. Pheochromocytoma - - + (as a part of the hypertension paroxysm) - -
  • CT is the preferred imaging modality for the diagnosis of pheochromocytoma.
The following findings may be observed on CT scan:[29]
  • On microscopic pathology, Pheochromocytoma typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing eosinophilic cytoplasm separated by fibrovascular stroma.
6. Burkitt lymphoma +/- (in non-endemic or sporadic form of the disease) - - - -
  • Chest, abdomen, and pelvis CT scan may be helpful in the diagnosis of Burkitt's lymphoma but it is not done routinely.[33]
  • On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:[34]
  • Medium-sized (~1.5-2x the size of a RBC) with uniform size ("monotonous") -- key feature (i.e. tumor nuclei size similar to that of histiocytes or endothelial cells)
  • Round nucleus
  • Small nucleoli
  • Relatively abundant cytoplasm (basophilic)
  • Brisk mitotic rate and apoptotic activity
  • Cellular outline usually appears squared off
  • "Starry-sky pattern":
  • The stars in the pattern are tingible-body macrophages (macrophages containing apoptotic tumor cells.
  • The tumour cells are the sky
7. Intussusception + - - +/- +
  • Ultrasound is the gold standard imaging modality used to diagnose intussusception[35]
    • Target or doughnut sign[36]
      • Edematous intussuscipien forms an external ring around the centrally located intussusceptum
      • Target sign is usually seen in right lower quadrant
    • Layers of intussusception forms pseudo-kidney appearance on the transverse view
  • CT scan may be helpful in the diagnosis of intussusception. CT scan maybe used when other image modalities like x-ray and ultrasound have not given positive results but suspicion of intussusception is high.
  • Intussusception occurs if there is an imbalance between the longitudinal and radial smooth muscle forces of intestine that maintain its normal structure. This imbalance leads to a segment of intestine to invaginate into another segment and cause entero-enteral intussusception. Etiology of intussusception is either idiopathic or pathologic (lead point). 
8. Hydronephrosis + +/- - - + (CVA tenderness in case of pyelonephritis)
  • In the case of renal colic (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing hydronephrosis as well as demonstrating the function of the other kidney. Many stones are not visible on plain x ray or IVU but 99% of stones are visible on CT and therefore CT is becoming a common choice of initial investigation.
  • The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.
9. Dysplastic kidney N/A N/A N/A N/A N/A

MCDK is usually diagnosed by ultrasound examination before birth.

  • Mass of non-communicating cysts of variable size.
  • Unlike severe hydronephrosis, in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.
  • Dysplastic, echogenic parenchyma may be visible between the cysts, but no normal renal parenchyma is seen.
  • MCKD can be discovered accidentally on CT scan.
  • CT scan shows myltiple cysts with absence of renal parenchyma.
  • MCKD is the result of abnormal differentiation of the renal parenchyma.
10. Pediatric Neuroblastoma + - - +/- +/-
  • CT scan is the investigation of choice for the diagnosis of neuroblastoma.[38]
  • On CT scan, neuroblastoma is characterized by:[39]
  • On microscopic histopathological analysis the presence of round blue cells separated by thin fibrous septa are characteristic findings of neuroblastoma.
  • Other findings of neuroblastoma on light microscopy may include:[40]
  • Homer-Wright rosettes (rosettes with a small meshwork of fibers at the center)
  • Neuropil-like stroma (paucicellular stroma with a cotton candy-like appearance)
11. Pediatric Rhabdomyosarcoma + +/- +/- - +/- On CT scan, rhabdomyosarocma is characterized by:
  • Soft tissue density
  • Some enhancement with contrast
  • Adjacent bony destruction (over 20% of cases)
12. Mesoblastic nephroma + + - + -
  • Ultrasound may be helpful in the diagnosis of mesoblastic nephroma.
  • Mesoblastic nephroma may presents as a well-defined mass with low-level homogeneous echoes.[41]
  • The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of mesoblastic nephroma.
  • CT scan may be helpful in the diagnosis of mesoblastic nephroma.
  • Findings on CT scan suggestive of mesoblastic nephroma include:
  • Solid hypoattenuating renal lesion
  • Variable contrast enhancement
  • No calcification

Classic mesoblastic nephroma

Cellular mesoblastic nephroma

  • Plump cells with vesicular nuclei
  • Well-defined border
  • Mitotically active

Mixed mesoblastic nephroma

  • Both classic pattern and cellular pattern areas are present
Most common renal tumor that occurs in 1st month of life

Epidemiology and Demographics

  • The incidence of malignant rhabdoid tumor of the kidney is approximately 0.019 per 100,000 individuals per year in the US. That of atypical teratoid/rhabdoid tumor is 0.089 per 100,000 per year, and 0.032 per 1000,000 yearly for the tumors found in other sites.[42]
  • Malignant rhabdoid tumor of the kidney accounts for about 2% of all pediatric renal malignancies.[9]
  • The mortality rate of malignant rhabdoid tumor is approximately 80%.[43]
  • It mostly occur in infants. The median reported age is about 22.5 months.[44]
  • Although malignant rhabdoid tumors usually affect children, some cases in adults have been reported with the age at diagnosis ranging from 32 to 60 years.[1]
  • It affects females and males equally.[42]

Risk Factors

There are no established risk factors for malignant rhabdoid tumor.[45]

Screening

There is insufficient evidence to recommend routine screening for malignant rhabdoid tumor.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

  • Common symptoms of malignant rhabdoid tumor of the head (atypical teratoid/rhabdoid tumor) include:[51]

Physical Examination

Laboratory Findings

  • Depending on the location of the tumor, there may be different lab findings in patients. The lab findings that may be seen according to the location of the tumor include:[46][9][1]

Electrocardiogram

  • There are no ECG findings associated with malignant rhabdoid tumor.

X-ray

There are no x-ray findings associated with malignant rhabdoid tumor.

Echocardiography or Ultrasound

  • Ultrasound may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on an ultrasound suggestive of/diagnostic of malignant rhabdoid tumor include:[9]

CT Scan

MRI

  • Abdominal MRI may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on MRI suggestive of/diagnostic of malignant rhabdoid tumor include:[3]
  • A lobulated mass with hypointense lesions on T1-weighted (W) and hyperintense on T2-W images
MRI showing supratentorial atypical teratoid/rhabdoid tumor (ATRT) in a young child source:Marvin 101


Other Imaging Findings

There are no other imaging findings associated with malignant rhabdoid tumor.

Other Diagnostic Findings

There are no other diagnostic studies associated with malignant rhabdoid tumor.

Treatment

Medical Therapy

Surgery

Primary Prevention

There are no established measures for the primary prevention of malignant rhabdoid tumor.

Secondary Prevention

There are no established measures for the secondary prevention of malignant rhabdoid tumor.

References

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM (2014). "Malignant rhabdoid tumor of the kidney arising in an adult patient". Proc (Bayl Univ Med Cent). 27 (3): 239–41. doi:10.1080/08998280.2014.11929125. PMC 4059580. PMID 24982576.
  2. Sijmons, Rolf H (2008). "Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome". Hereditary Cancer in Clinical Practice. 6 (1): 22. doi:10.1186/1897-4287-6-1-22. ISSN 1897-4287.
  3. 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK (2014). "Malignant rhabdoid tumor of liver". J Indian Assoc Pediatr Surg. 19 (1): 38–40. doi:10.4103/0971-9261.125961. PMC 3935299. PMID 24604983.
  4. Gonzalez-Crussi F, Goldschmidt RA, Hsueh W, Trujillo YP (1982). "Infantile sarcoma with intracytoplasmic filamentous inclusions: distinctive tumor of possible histiocytic origin". Cancer. 49 (11): 2365–75. doi:10.1002/1097-0142(19820601)49:11<2365::aid-cncr2820491125>3.0.co;2-i. PMID 7200394.
  5. Kook KH, Park MS, Yim H, Lee SY, Jang JW, Grossniklaus HE (2009). "A case of congenital orbital malignant rhabdoid tumor: systemic metastasis following exenteration". Ophthalmologica. 223 (4): 274–8. doi:10.1159/000213643. PMC 2988226. PMID 19390226.
  6. Rootman J, Damji KF, Dimmick JE (1989). "Malignant rhabdoid tumor of the orbit". Ophthalmology. 96 (11): 1650–4. PMID 2694050.
  7. 7.0 7.1 Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R; et al. (1998). "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer". Nature. 394 (6689): 203–6. doi:10.1038/28212. PMID 9671307.
  8. Ogino S, Ro TY, Redline RW (2000). "Malignant rhabdoid tumor: A phenotype? An entity?--A controversy revisited". Adv Anat Pathol. 7 (3): 181–90. PMID 10809224.
  9. 9.0 9.1 9.2 9.3 9.4 9.5 Winger, David I.; Buyuk, Arzu; Bohrer, Stuart; Turi, George K.; Scimeca, Phillip; Price, Anita P.; Katz, Douglas S. (2006). "Radiology–Pathology Conference: rhabdoid tumor of the kidney". Clinical Imaging. 30 (2): 132–136. doi:10.1016/j.clinimag.2005.09.027. ISSN 0899-7071.
  10. D. S. Hartman & R. C. Sanders (1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 1 (3): 117–122. PMID 6152936. Unknown parameter |month= ignored (help)
  11. J. F. De Campo (1986). "Ultrasound of Wilms' tumor". Pediatric radiology. 16 (1): 21–24. PMID 3003660.
  12. Sara E. Wobker & Sean R. Williamson (2017). "Modern Pathologic Diagnosis of Renal Oncocytoma". Journal of kidney cancer and VHL. 4 (4): 1–12. doi:10.15586/jkcvhl.2017.96. PMID 29090117.
  13. Bita Geramizadeh, Mahmoud Ravanshad & Marjan Rahsaz (2008). "Useful markers for differential diagnosis of oncocytoma, chromophobe renal cell carcinoma and conventional renal cell carcinoma". Indian journal of pathology & microbiology. 51 (2): 167–171. PMID 18603673. Unknown parameter |month= ignored (help)
  14. Oleksandr N. Kryvenko, Merce Jorda, Pedram Argani & Jonathan I. Epstein (2014). "Diagnostic approach to eosinophilic renal neoplasms". Archives of pathology & laboratory medicine. 138 (11): 1531–1541. doi:10.5858/arpa.2013-0653-RA. PMID 25357116. Unknown parameter |month= ignored (help)
  15. A. M. Amar, G. Tomlinson, D. M. Green, N. E. Breslow & P. A. de Alarcon (2001). "Clinical presentation of rhabdoid tumors of the kidney". Journal of pediatric hematology/oncology. 23 (2): 105–108. PMID 11216700. Unknown parameter |month= ignored (help)
  16. T. I. Han, M. J. Kim, H. K. Yoon, J. Y. Chung & K. Choeh (2001). "Rhabdoid tumour of the kidney: imaging findings". Pediatric radiology. 31 (4): 233–237. doi:10.1007/s002470000417. PMID 11321739. Unknown parameter |month= ignored (help)
  17. S. L. Gooskens, M. E. Houwing, G. M. Vujanic, J. S. Dome, T. Diertens, A. Coulomb-l'Hermine, J. Godzinski, K. Pritchard-Jones, N. Graf & M. M. van den Heuvel-Eibrink (2017). "Congenital mesoblastic nephroma 50 years after its recognition: A narrative review". Pediatric blood & cancer. 64 (7). doi:10.1002/pbc.26437. PMID 28124468. Unknown parameter |month= ignored (help)
  18. Zuo-Peng Wang, Kai Li, Kui-Ran Dong, Xian-Min Xiao & Shan Zheng (2014). "Congenital mesoblastic nephroma: Clinical analysis of eight cases and a review of the literature". Oncology letters. 8 (5): 2007–2011. doi:10.3892/ol.2014.2489. PMID 25295083. Unknown parameter |month= ignored (help)
  19. Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
  20. De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
  21. Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
  22. Jolly RD, Stellwagen E, Babul J, Vodkaĭlo LV, Titov VL, Moldomusaev DM, Maianskiĭ AN (November 1975). "Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases". Adv Vet Sci Comp Med. 19 (23): 1–21. PMID 1978.
  23. Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC (July 2015). "Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference". Kidney Int. 88 (1): 17–27. doi:10.1038/ki.2015.59. PMC 4913350. PMID 25786098.
  24. Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D (January 2009). "Unified criteria for ultrasonographic diagnosis of ADPKD". J. Am. Soc. Nephrol. 20 (1): 205–12. doi:10.1681/ASN.2008050507. PMC 2615723. PMID 18945943.
  25. Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC (October 2002). "Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families". Kidney Int. 62 (4): 1385–94. doi:10.1111/j.1523-1755.2002.kid581.x. PMID 12234310.
  26. Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS (March 2014). "Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1". Clin J Am Soc Nephrol. 9 (3): 527–35. doi:10.2215/CJN.06380613. PMC 3944763. PMID 24509297.
  27. Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D (October 2011). "Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood". Kidney Int. 80 (7): 768–76. doi:10.1038/ki.2011.225. PMID 21775974.
  28. Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R (June 2010). "Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases". Clin J Am Soc Nephrol. 5 (6): 1079–90. doi:10.2215/CJN.06810909. PMC 2879303. PMID 20378641.
  29. Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  30. Whalen RK, Althausen AF, Daniels GH (1992). "Extra-adrenal pheochromocytoma". J Urol. 147 (1): 1–10. PMID 1729490.
  31. Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT; et al. (2009). "Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma". Ann Intern Med. 150 (1): 27–32. PMC 3490128. PMID 19124817.
  32. Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  33. Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015
  34. Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L (2003). "Burkitt's lymphoma: new insights into molecular pathogenesis". J. Clin. Pathol. 56 (3): 188–92. PMC 1769902. PMID 12610094. Unknown parameter |month= ignored (help)
  35. Ko HS, Schenk JP, Tröger J, Rohrschneider WK (2007). "Current radiological management of intussusception in children". Eur Radiol. 17 (9): 2411–21. doi:10.1007/s00330-007-0589-y. PMID 17308922.
  36. Boyle MJ, Arkell LJ, Williams JT (1993). "Ultrasonic diagnosis of adult intussusception". Am. J. Gastroenterol. 88 (4): 617–8. PMID 8470658.
  37. Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
  38. Colon NC, Chung DH (2011). "Neuroblastoma". Adv Pediatr. 58 (1): 297–311. doi:10.1016/j.yapd.2011.03.011. PMC 3668791. PMID 21736987.
  39. Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
  40. Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015
  41. Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma
  42. 42.0 42.1 42.2 Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B (2013). "Epidemiology of rhabdoid tumors of early childhood". Pediatr Blood Cancer. 60 (1): 77–81. doi:10.1002/pbc.24141. PMC 3399923. PMID 22434719.
  43. 43.0 43.1 43.2 43.3 43.4 43.5 43.6 43.7 Gündüz, Kaan; Shields, Jerry A.; Eagle, Ralph C.; Shields, Carol L.; De Potter, Patrick; Klombers, Lee (1998). "Malignant Rhabdoid Tumor of the Orbit". Archives of Ophthalmology. 116 (2). doi:10.1001/archopht.116.2.243. ISSN 0003-9950.
  44. 44.0 44.1 44.2 Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V; et al. (2012). "Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis". Ann Diagn Pathol. 16 (6): 504–7. doi:10.1016/j.anndiagpath.2011.04.008. PMC 3448015. PMID 21775180.
  45. Horazdovsky, Ryan; Manivel, J. Carlos; Cheng, Edward Y. (2013). "Surgery and Actinomycin Improve Survival in Malignant Rhabdoid Tumor". Sarcoma. 2013: 1–8. doi:10.1155/2013/315170. ISSN 1357-714X.
  46. 46.0 46.1 46.2 46.3 Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S (2010). "Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation". Cancer Imaging. 10: 97–101. doi:10.1102/1470-7330.2010.0010. PMC 2842174. PMID 20299301.
  47. 47.0 47.1 Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N; et al. (2018). "High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience". Pediatr Blood Cancer. 65 (1). doi:10.1002/pbc.26746. PMID 28843054.
  48. von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N; et al. (2011). "Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database". Pediatr Blood Cancer. 57 (6): 978–85. doi:10.1002/pbc.23236. PMID 21796761.
  49. van den Heuvel-Eibrink MM, van Tinteren H, Rehorst H, Coulombe A, Patte C, de Camargo B; et al. (2011). "Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group". Pediatr Blood Cancer. 56 (5): 733–7. doi:10.1002/pbc.22922. PMID 21370404.
  50. 50.0 50.1 50.2 Sisler, C L; Siegel, M J (1989). "Malignant rhabdoid tumor of the kidney: radiologic features". Radiology. 172 (1): 211–212. doi:10.1148/radiology.172.1.2544921. ISSN 0033-8419.
  51. 51.0 51.1 Biswas A, Kashyap L, Kakkar A, Sarkar C, Julka PK (2016). "Atypical teratoid/rhabdoid tumors: challenges and search for solutions". Cancer Manag Res. 8: 115–125. doi:10.2147/CMAR.S83472. PMC 5033212. PMID 27695363.
  52. Warren, Katherine Sarah; Oxley, Jon; Koupparis, Anthony (2014). "Pure malignant rhabdoid tumour of the bladder". Canadian Urological Association Journal. 8 (3–4): 260. doi:10.5489/cuaj.1633. ISSN 1920-1214.
  53. 53.0 53.1 Trobaugh-Lotrario AD, Finegold MJ, Feusner JH (2011). "Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy". Pediatr Blood Cancer. 57 (3): 423–8. doi:10.1002/pbc.22857. PMID 21744471.
  54. 54.0 54.1 Jayaram A, Finegold MJ, Parham DM, Jasty R (2007). "Successful management of rhabdoid tumor of the liver". J Pediatr Hematol Oncol. 29 (6): 406–8. doi:10.1097/MPH.0b013e3180601011. PMID 17551403.
  55. 55.0 55.1 Ravindra KV, Cullinane C, Lewis IJ, Squire BR, Stringer MD (2002). "Long-term survival after spontaneous rupture of a malignant rhabdoid tumor of the liver". J Pediatr Surg. 37 (10): 1488–90. PMID 12378463.
  56. Biswas, Ahitagni; Kashyap, Lakhan; Kakkar, Aanchal; Sarkar, Chitra; Julka, Pramod (2016). "Atypical teratoid/rhabdoid tumors: challenges and search for solutions". Cancer Management and Research. Volume 8: 115–125. doi:10.2147/CMAR.S83472. ISSN 1179-1322.
  57. 57.0 57.1 Duan, Chao; Zheng, Lei; Zhang, Dawei; Jin, Mei; Su, Yan; Zhao, Wen; Wang, Xisi; Zhao, Qian; Huang, Cheng; Zhang, Jie; Zhang, Jianguo; Ni, Xin; Ma, Xiaoli (2018). "Treatment of malignant rhabdoid tumors of the head and neck with combined chemotherapy and 125 I particle implantation". Pediatric Investigation. 2 (1): 53–55. doi:10.1002/ped4.12025. ISSN 2574-2272. line feed character in |title= at position 95 (help)
  58. Sterling, Matthew E.; Long, Christopher J.; Bosse, Kristopher R.; Bagatell, Rochelle; Shukla, Aseem R. (2015). "A Rapid Progression of Disease After Surgical Excision of a Malignant Rhabdoid Tumor of the Bladder". Urology. 85 (3): 664–666. doi:10.1016/j.urology.2014.11.011. ISSN 0090-4295.
  59. Ng, Wing Ki; Toe, Boon Ping; Lau, Hin Yue (2019). "Malignant Rhabdoid Tumor of the Mediastinum: A Case Report and Literature Review". Journal of Clinical Imaging Science. 9: 7. doi:10.25259/JCIS-9-7. ISSN 2156-7514.

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