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{{DiseaseDisorder infobox |
__NOTOC__
  Name        = Desmoplastic small round cell tumor |
  ICD10      = |
  ICD9        = |
  ICDO        = 8806/3 |
}}
{{CMG}}
{{SI}}
{{SI}}
{{Editor Help}}
{{CMG}}{{AE}} {{OK}}, {{SR}}


[[Image:Dsrct1.jpg|thumb|left||Display of small round blue cells characteristic of desmoplastic small round cell tumor.]][[Image:Dsrct2.jpg|thumb|left||Cell exhibiting blue oval and round shapes of desmoplastic small round blue cell tumor]]
{{SK}} Desmoplastic small round cell tumour; Desmoplastic small round blue cell tumor; Desmoplastic small round blue cell tumour; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic cancer; Desmoplastic sarcoma; DSRCT; Mesothelioblastoma; Polyphenotypic small round cell tumor
==Rare Sarcoma==


'''[[Desmoplastic]] small round cell tumor''' is classified as a [[soft tissue sarcoma]]. It is an aggressive and rare tumor that primarily occurs as multiple masses in the [[abdomen]]. Other areas affected may include the [[lymph nodes]], the lining of the [[abdomen]], [[diaphragm (anatomy)|diaphragm]], spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the [[pelvis]]. Reported sites of metatastic spread include the [[liver]], [[lung]]s, [[lymph nodes]], [[brain]], skull, and [[bone]]s.
==Overview==
Desmoplastic small round cell tumor is an extremely rare, highly aggressive, and [[malignant]] [[neoplasm]] initially reported by Gerald and Rosai in 1989. The [[pathogenesis]] or [[histogenesis]] of desmoplastic small round cell tumor is uncertain; it mainly occurs in adolescents and mostly involves the [[abdominal]] and/or [[pelvic]] [[peritoneum]]. Moreover, it was also reported in [[epididymis]], [[pleura]], soft tissues, [[bone]], [[ovary]], and [[kidney]]. The [[diagnosis]] can be confirmed by [[histological]] and [[immunohistochemistry]] studies. [[CT scan]] is the most widely used [[diagnostic]] modality; abdominopelvic site was the commonest presentation and the [[disease]] can occur at other nonserosal surfaces also. Despite multimodality [[treatments]], optimal treatment strategies remain controversial and the [[prognosis]] is poor. Current multimodality treatment rarely achieves cure and prolongs life. Here, we described 12 cases of [[abdominal]] DSRCT and retrospectively analyzed its [[clinical]], [[radiological]], and biopathological features, highlighting the modalities of treatment


The [[tumor]] is considered a childhood cancer that predominantly strikes boys and young adults. The disease rarely occurs in females, but when it does the tumors are often mistaken for [[Ovarian cancer]].
==Historical Perspective==
[[Desmoplastic small round cell tumor]] was first described by [[pathologists]], William L. Gerald and Juan Rosai, in 1989.<ref name="pmid24987737">{{cite journal |vauthors=Zhang G, Liu G, Zhao D, Cui X, Li G |title=Desmoplastic small round cell tumor of the abdomen and pelvis: clinicopathological characters of 12 cases |journal=ScientificWorldJournal |volume=2014 |issue= |pages=549612 |date=2014 |pmid=24987737 |pmc=4060500 |doi=10.1155/2014/549612 |url=}}</ref> but as a distinct entity in 1991.<ref name="pmid25804122">{{cite journal |vauthors=Mora J, Modak S, Cheung NK, Meyers P, de Alava E, Kushner B, Magnan H, Tirado OM, Laquaglia M, Ladanyi M, Rosai J |title=Desmoplastic small round cell tumor 20 years after its discovery |journal=Future Oncol |volume=11 |issue=7 |pages=1071–81 |date=2015 |pmid=25804122 |doi=10.2217/fon.15.32 |url=}}</ref>
==Pathophysiology==
===Pathogenesis===
[[Desmoplastic small round cell tumor]] is a highly aggressive, rare [[tumor]] of [[mesenchymal]] origin whose [[oncogenic]] effect is presumed to originate from the unique [[chromosomal translocation]] t(11;22)(p13:q12), leading to the fusion of the N-terminal domain of Ewing’s sarcoma gene ''[[Ewing sarcoma breakpoint region 1|EWS]]'', to the C-terminal domain of Wilms’ [[tumor suppressor gene]], ''[[WT1]]'', which is found in most but not all [[desmoplastic small round cell tumor]]<nowiki/>s.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref>


==Causes==
===Genetics===
[[Desmoplastic small round cell tumor]] is associated with a unique [[chromosomal translocation]] t(11;22)(p13:q12), resulting in an ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' [[transcript]] that is [[diagnostic]] of this [[tumor]]. This [[transcript]] codes for a [[protein]] that acts as a transcriptional activator that fails to suppress [[tumor]] [[growth]]. The ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' [[translocation]] product targets [[SLC29A4|ENT4]]. ENT4 is also known as [[SLC29A4|PMAT]].<ref name="pmid27863505">{{cite journal |vauthors=Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM |title=A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease |journal=Hum. Genomics |volume=10 |issue=1 |pages=36 |date=November 2016 |pmid=27863505 |pmc=5116179 |doi=10.1186/s40246-016-0092-0 |url=}}</ref><ref name="pmid29576221">{{cite journal |vauthors=de Marcellus C, Sarnacki S, Pierron G, Ranchère-Vince D, Scalabre A, Bolle S, Minard-Colin V, Corradini N, Fayard C, Orbach D |title=[Desmoplastic small round cell tumor in children, adolescents and young adults] |language=French |journal=Bull Cancer |volume=105 |issue=5 |pages=523–536 |date=May 2018 |pmid=29576221 |doi=10.1016/j.bulcan.2018.01.014 |url=}}</ref>


There are no known risk factors that have been identified specific to the disease. The tumor appears to arise from the primitive cells of childhood, and is considered a childhood cancer.
===Associated Conditions===
There may be a chimeric relationship between [[desmoplastic small round cell tumor]], and [[Wilms' tumor]] and [[Ewing's sarcoma]]. Together with [[neuroblastoma]] and [[non-Hodgkin's lymphoma]], they form the small cell [[tumors]].<ref name="pmid29576221">{{cite journal |vauthors=de Marcellus C, Sarnacki S, Pierron G, Ranchère-Vince D, Scalabre A, Bolle S, Minard-Colin V, Corradini N, Fayard C, Orbach D |title=[Desmoplastic small round cell tumor in children, adolescents and young adults] |language=French |journal=Bull Cancer |volume=105 |issue=5 |pages=523–536 |date=May 2018 |pmid=29576221 |doi=10.1016/j.bulcan.2018.01.014 |url=}}</re


Research has indicated that there is a chemeric relationship between desmoplastic small round cell tumor and [[Wilms' Tumor]] and [[Ewing's Sarcoma]]. DSRCT is associated with a unique chromosomal translocation (t11;22)(p13:q12) resulting in a EWS/WTI transcript that is diagnostic of this tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth.
===Gross Pathology===
*On gross pathology, desmoplastic small giant cell tumor is characterized by a mass demonstrating the presence of nonuniform white-gray multinodules, distributed widely in the peritoneum.<nowiki><ref name="ZhangLiu2014"></nowiki>{{cite journal|last1=Zhang|first1=Guangzhao|last2=Liu|first2=Guangjun|last3=Zhao|first3=Dahua|last4=Cui|first4=Xijun|last5=Li|first5=Gang|title=Desmoplastic Small Round Cell Tumor of the Abdomen and Pelvis: Clinicopathological Characters of 12 Cases|journal=The Scientific World Journal|volume=2014|year=2014|pages=1–7|issn=2356-6140|doi=10.1155/2014/549612}}<nowiki><ref name="pmid25431592"></nowiki>{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref><ref name="causesdsrct1">Causes of desmoplastic small round cell tumor. <nowiki><ref name="pmid27863505"></nowiki>{{cite journal |vauthors=Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM |title=A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease |journal=Hum. Genomics |volume=10 |issue=1 |pages=36 |date=November 2016 |pmid=27863505 |pmc=5116179 |doi=10.1186/s40246-016-0092-0 |url=}}</ref>


==Symptoms==
===Microscopic Pathology===
On [[microscopic]] [[histopathological]] analysis, [[desmoplastic small round cell tumor]] is characterized by:<ref name="pmid27621277">{{cite journal |vauthors=Thway K, Noujaim J, Zaidi S, Miah AB, Benson C, Messiou C, Jones RL, Fisher C |title=Desmoplastic Small Round Cell Tumor: Pathology, Genetics, and Potential Therapeutic Strategies |journal=Int. J. Surg. Pathol. |volume=24 |issue=8 |pages=672–684 |date=December 2016 |pmid=27621277 |doi=10.1177/1066896916668637 |url=}}</ref><ref name="pmid22128126">{{cite journal |vauthors=Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH |title=Imaging of desmoplastic small round cell tumour in adults |journal=Br J Radiol |volume=85 |issue=1010 |pages=187–92 |date=February 2012 |pmid=22128126 |pmc=3473944 |doi=10.1259/bjr/57186741 |url=}}</ref>
*Broad bands of paucicellular fibrous [[stroma]]
*Small round [[cells]] in nests with an undulating sharp border
:*The small round [[cells]] lack distinct [[nucleoli]] and have scant [[cytoplasm]]; they are small round cell [[tumor]] cells.
*[[mitoses|Abundant mitoses]]
*+/-[[Necrosis]]
*Hyperplastic [[blood vessels]]


There are few early warning signs that a patient has a desmoplastic small round cell tumor. Patients are often young and healthy as the tumors grow and spread uninhibited within the abdominal cavity. These are rare tumors and symptoms are often misdiagnosed by family physicians. The abdominal masses can grow to enormous size before being noticed by the patient. The tumors can be felt as hard, round masses by palpating the abdomen.
===Immunohistochemistry===
[[Desmoplastic small round cell tumor]] is demonstrated by positivity to [[tumor]] markers, such as:<ref name="pmid24987737">{{cite journal |vauthors=Zhang G, Liu G, Zhao D, Cui X, Li G |title=Desmoplastic small round cell tumor of the abdomen and pelvis: clinicopathological characters of 12 cases |journal=ScientificWorldJournal |volume=2014 |issue= |pages=549612 |date=2014 |pmid=24987737 |pmc=4060500 |doi=10.1155/2014/549612 |url=}}</ref><ref name="pmid27621277" />
*[[SLC4A3|AE1/AE3]]
*[[Desmin]]
*[[Vimentin]]
*EMA
*[[neuron-specific enolase|Neuron-specific enolase (NSE)]]
*[[WT1|WT1 (C-terminal)]]
*[[CD57]]


First symptoms of the disease often include abdominal distention, abdominal mass, abdominal or back pain, gastrointestinal obstruction, lack of appetite, [[ascites]], anemia, and/or cachexia.
==Causes==
Common causes of [[desmoplastic small round cell tumor]] include [[mutation|genetic mutations]]. A [[translocation|chromosomal translocation]], t(11;22)(p13:q12) resulting in an ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' transcript, may result in formation of [[desmoplastic small round cell tumor]]. This transcript codes for a [[protein]] that acts as a transcriptional [[activator]] that fails to suppress [[tumor]] growth. The ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' [[translocation]] product targets [[SLC29A4|ENT4]]. ENT4 is also known as [[SLC29A4|PMAT]].<ref name="causesdsrct1">Causes of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor#Differential_Diagnoses. Accessed on March 29, 2016</ref>


Other reported symptoms include unknown lumps, thyroid conditions, hormonal conditions, blood clotting, kidney or urological problems, testicle, breast, uterine, vaginal, or ovarian masses.
==Differentiating Desmoplastic Small Round Cell Tumor from other Diseases==
*[[Desmoplastic small round cell tumor]] in the abdomen may cause [[gastrointestinal]] [[symptoms]] and mimic other [[abdominal]] [[Tumor|tumors]]. So, they must be differentiated from other [[tumors]] in the [[abdomen]], such as:<ref name="pmid27190620">{{cite journal |vauthors=Wakahashi S, Sudo T, Ichida K, Sugita S, Hasegawa T, Nagao S, Yamaguchi S, Sakuma T, Yamada H |title=Diagnosis of desmoplastic small-round-cell tumor by cytogenetic analysis: a case report |journal=Clin Case Rep |volume=4 |issue=5 |pages=520–3 |date=May 2016 |pmid=27190620 |pmc=4856250 |doi=10.1002/ccr3.558 |url=}}</ref>
:*[[Rhabdomyosarcoma]]
:*[[Neuroblastoma]]
:*[[carcinoid|Mesenteric carcinoid]]
*In older patients, [[desmoplastic small round cell tumor]] must be differentiated from:
:*[[Non-Hodgkins lymphoma]]
:*[[Peritoneal mesothelioma]]
:*[[Peritoneal carcinomatosis]]
*In males, desmoplastic small round cell tumor may be mistaken for [[testicular cancer|testicular germ cell tumor]] while in females, desmoplastic small round cell tumor may be mistaken for [[ovarian cancer]].
*Desmoplastic small round cell tumor must be differentiated from other small-round blue cell [[cancers]], such as:<ref name="pmid27190620">{{cite journal |vauthors=Wakahashi S, Sudo T, Ichida K, Sugita S, Hasegawa T, Nagao S, Yamaguchi S, Sakuma T, Yamada H |title=Diagnosis of desmoplastic small-round-cell tumor by cytogenetic analysis: a case report |journal=Clin Case Rep |volume=4 |issue=5 |pages=520–3 |date=May 2016 |pmid=27190620 |pmc=4856250 |doi=10.1002/ccr3.558 |url=}}</ref>
:*[[Ewing sarcoma]]
:*[[Neuroblastoma]]
:*[[rhabdomyosarcoma|Embryonal rhabdomyosarcoma]]
:*[[Pineoblastoma]]
:*[[Wilms tumor]]
:*[[Retinoblastoma]]
:*[[Hepatoblastoma]]
:*[[PNET|CNS primitive neuroectodermal tumor (CNS-PNET)]]
:*[[PNET|Peripheral primitive neuroectodermal tumor (pPNET)]]
:*Askin tumor
:*Neuroepithelioma
:*[[Acute leukemia]]
:*[[mesothelioma|Small cell mesothelioma]]


==Differentials==
==Epidemiology and Demographics==
===Incidence===
*Age-adjusted incidence rate of desmoplastic small round cell tumor for African Americans and Caucasians is 0.05  and 0.02 per 100,000 individuals, respectively.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref>
*The overall age-adjusted incidence rate of desmoplastic small round cell tumor is 0.03 per 100,000 individuals, with a peak incidence of 0.074 per 100,000 individuals in the 20–24 years of age group.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref>


Because this is a rare tumor not many family physicians or oncologists are familiar with this disease. DSRCT in young patients can be mistaken for other abdominal tumors including rhabdomyosarcoma, neuroblastoma, and mesenteric carcinoid. In older patients DSRCT can resemble lymphoma, peritoneal mesothelioma, and peritoneal carcinomatosis. In males DSRCT may be mistaken for Germ Cell or testicular cancer. In females DSRCT can be mistaken for Ovarian cancer. Desmoplastic small round cell tumor shares characteristics with other small round cell cancers including Ewing's Sarcoma, Acute Leukemia, small cell Mesothelioma, Neuroblastoma, Primitive Neuroectodermal Tumor, Rhabdomyosarcoma, and Wilm's tumor.
===Age===
*Desmoplastic small round cell tumor is a rare disease that tends to affect children and young adults.
*Peak age of incidence for desmoplastic small round cell tumor is between 20 and 24 years.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref>
===Gender===
[[Males]] are more commonly affected with [[desmoplastic small round cell tumor]] than [[females]]. The male to female ratio is approximately 4 to 1.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref>


==Pathology==
===Race===
Desmoplatic small round cell tumor usually affects individuals of the African American and Caucasian race. Latin American and Asian individuals are less likely to develop desmoplatic small round cell [[tumor]].<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref>
==Risk Factors==
There are no established [[risk factors]] for desmoplastic small round cell tumor


Pathology reveals well circumscribed solid tumor nodules within a dense desmoplastic stroma.  Often areas of central necrosis are present.  Tumor cells have hyperchromatic nuclei with increased nuclear/cytoplasmic ratio.  
==Natural History, Complications, and Prognosis==
===Natural History===
Because the [[disease]] can be misdiagnosed or remain undetected, [[tumors]] frequently grow large within the [[abdomen]] and [[metastasize]] or seed to other parts of the body.


On immunohistochemistry, these cells have trilinear coexpression including the epithelial marker cytokeratin, the mesenchymal markers desmin and vimentin, and the neuronal marker neuron-specific enolase. Thus, although initially thought to be of mesothelial origin due to sites of presentation, it is now hypothesized to arise from a progenitor cell with multiphenotypic differentiation.
===Complications===
[[Complications]] of desmoplastic small round cell tumor include:<ref name="pmid26347069">{{cite journal |vauthors=Nabi S, Saste A, Gulati R |title=A Rare Case of Metastatic Desmoplastic Small Round Cell Tumour: Diagnosis and Management |journal=Case Rep Oncol Med |volume=2015 |issue= |pages=925453 |date=2015 |pmid=26347069 |pmc=4546747 |doi=10.1155/2015/925453 |url=}}</ref>
*[[peritoneum|Peritoneal seeding]]
*[[Lymph node|Lymph nodal involvement]]
*[[Metastasis]] ([[liver mass|liver]], [[bone mass|bone]], [[lung mass|lung]])


==Treatment==
===Prognosis===
*The prognosis for desmoplastic small round [[cell]] [[tumor]] remains poor and depends upon the stage of the cancer.
*The 5-year overall survival rate of patients with desmoplastic small round cell tumor is approximately 15%.<ref name="pmid29871905">{{cite journal |vauthors=Subbiah V, Lamhamedi-Cherradi SE, Cuglievan B, Menegaz BA, Camacho P, Huh W, Ramamoorthy V, Anderson PM, Pollock RE, Lev DC, Qiao W, McAleer MF, Benjamin RS, Patel S, Herzog CE, Daw NC, Feig BW, Lazar AJ, Hayes-Jordan A, Ludwig JA |title=Multimodality Treatment of Desmoplastic Small Round Cell Tumor: Chemotherapy and Complete Cytoreductive Surgery Improve Patient Survival |journal=Clin. Cancer Res. |volume=24 |issue=19 |pages=4865–4873 |date=October 2018 |pmid=29871905 |doi=10.1158/1078-0432.CCR-18-0202 |url=}}</ref>


Desmoplastic small round cell tumor is frequently misdiagnosed. Adult patients should always be referred to a sarcoma specialist. This is an aggressive, rare, fast spreading tumor and both pediatric and adult patients should be treated at a Sarcoma Center.
==Diagnosis==
The diagnosis constitutes <ref name="pmid27955733">{{cite journal |vauthors=Hayes-Jordan A, LaQuaglia MP, Modak S |title=Management of desmoplastic small round cell tumor |journal=Semin. Pediatr. Surg. |volume=25 |issue=5 |pages=299–304 |date=October 2016 |pmid=27955733 |pmc=5614508 |doi=10.1053/j.sempedsurg.2016.09.005 |url=}}</ref>


There is no standard protocol for the disease. However, recent journals and studies have reported that some patients respond to high dose (P6 Protocol) [[chemotherapy]], maintenance chemotherapy, [[debulking operation]] , cytoreductive surgery, and [[radiation therapy]]. Other treatment options include: [[Hematopoietic stem cell transplantation]], Intensity-Modulated Radiation Therapy, [[Radiofrequency ablation]], Stereotactic Body [[radiation therapy]], [[Intraperitoneal hyperthermic chemoperfusion]], and Clinical Trials.
===Symptoms===
*There are few early warning signs that a [[patient]] has a desmoplastic small round cell tumor.
*[[Patients]] are often young and healthy as the tumors grow and spread uninhibited within the [[abdominal cavity]]. These are rare [[tumors]] and the symptoms are often misdiagnosed by physicians. The [[abdominal]] [[lump]] may grow to enormous size before being noticed by the [[patient]].


==Prognosis==
====Common Symptoms====
Common [[symptoms]] of desmoplastic small round cell [[tumor]] include:
*[[Abdominal distention]]
*[[Abdominal mass|Lump in abdomen]]
*[[Abdominal pain]]
*[[Vomiting]]
*[[Back pain]]
*[[intestinal obstruction|Gastrointestinal obstruction]]
*[[anorexia|Lack of appetite]]
*[[Fatigue]]
*[[Weakness]]
*[[Cachexia]]


The prognosis for desmoplastic small round cell tumor remains poor with less than 20% surviving beyond two to three years. Prognosis often depends upon the stage of the cancer and the grade of the tumor. Because the disease can be misdiagnosed or remain undetected tumors frequently grow large within the abdomen and [[metastasized]] or seed to other parts of the body.
====Less Common Symptoms====
Less common [[symptoms]] of desmoplastic small round cell tumor include:
*[[lump|Unknown lumps]]
*[[thyroid gland|Thyroid conditions]]
*[[endocrinology|Hormonal problems]]
*[[Blood clotting|Blood clotting problems]]
*[[renal disease|Kidney or urological problems]]
*Lump in the [[testicle]], [[breast]], [[uterus]], [[Vestibule of the vagina|vagina]], or [[ovary]]


There is no known organ or area of origin. Desmoplastic small round cell tumor can metastasize through lymph nodes or the blood stream. Sites of metastatis include the spleen, diaphragm, liver, large and small intestine, lungs, central nervous system, bones, uterus, bladder, genitals, abdominal cavity, and the brain.
===Physical Examination===
Common physical examination findings of desmoplastic small round cell [[tumor]] include:<ref name="pmid23840979">{{cite journal |vauthors=Abu-Zaid A, Azzam A, Alnajjar A, Al-Hussaini H, Amin T |title=Desmoplastic small round cell tumor of stomach |journal=Case Rep Gastrointest Med |volume=2013 |issue= |pages=907136 |date=2013 |pmid=23840979 |pmc=3690222 |doi=10.1155/2013/907136 |url=}}</ref>
*[[abdominal mass|Palpable adominal mass]]
*[[Ascites]]
*Increased abdominal girth


Indications are that a multi-modality approach of high dose chemotherapy, 90-100% surgical resection, radiation, and stem cell rescue improves survival for some patients.
===CT===
*[[Abdominal]] [[CT scan]] is the most widely used [[diagnostic]] modality for desmoplastic small round cell tumor.<ref name="pmid22128126">{{cite journal |vauthors=Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH |title=Imaging of desmoplastic small round cell tumour in adults |journal=Br J Radiol |volume=85 |issue=1010 |pages=187–92 |date=February 2012 |pmid=22128126 |pmc=3473944 |doi=10.1259/bjr/57186741 |url=}}</ref>
*Findings on [[CT scan]] suggestive of desmoplastic small round cell tumor include a solitary to multiple [[soft tissue]] masses with no definite organ of origin, usually in the retrovesical or rectouterine space, which enhance heterogenously on contrast studies. [[Necrosis]], [[hemorrhage]], and [[fibrosis|fibrous components]] are common.
*[[peritoneum|Peritoneal seeding]], [[lymph node|lymph nodal involvement]], [[metastasis|liver and bone metastases]] may also be demonstrated.


Some patients with inoperable tumor seem to benefit from long term low dose chemotherapy, turning desmoplastic small round cell tumor into a chronic disease.
===MRI===
*[[MRI]] may helpful in delineating the extent of desmoplastic small round cell tumor, if [[surgery]] is considered.<ref name="pmid22128126">{{cite journal |vauthors=Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH |title=Imaging of desmoplastic small round cell tumour in adults |journal=Br J Radiol |volume=85 |issue=1010 |pages=187–92 |date=February 2012 |pmid=22128126 |pmc=3473944 |doi=10.1259/bjr/57186741 |url=}}</ref>
*On [[MRI]], desmoplastic small round cell tumor is characterized by hypo- to isointensity on T1-weighted images. On contrast administration, it has a heterogenous enhancement, due to the fibrous [[stroma]] and degenerative features including [[necrosis]], [[hemorrhage]], and [[calcification]].


==Research==
==Treatment==
 
Treatment includes<ref name="pmid27955733">{{cite journal |vauthors=Hayes-Jordan A, LaQuaglia MP, Modak S |title=Management of desmoplastic small round cell tumor |journal=Semin. Pediatr. Surg. |volume=25 |issue=5 |pages=299–304 |date=October 2016 |pmid=27955733 |pmc=5614508 |doi=10.1053/j.sempedsurg.2016.09.005 |url=}}</ref>
The [http://www.stehlin.org Stehlin Foundation] currently offers DSRCT patients the opportunity to send samples of their tumors free of charge for testing. Research scientists are growing the samples on nude mice and testing various chemical agents to find which are most effective against the individual's tumor.
*Desmoplastic small round cell tumor is frequently misdiagnosed. Adult [[patients]] should always be referred to a [[sarcoma]] specialist. This is an aggressive, rare, fast spreading [[tumor]] and both [[pediatric]] and adult patients should be treated at a [[sarcoma]] center.
 
*[[surgery|Surgical excision]] with combination [[chemotherapy]] as an adjunct is mandatory for nonmetastatic cases because these modalities used in isolation may have less impact.
Patients with advanced desmoplastic small round cell tumor may qualify to participate in [http://clinicaltrials.gov/ct/search?term=desmoplastic+small+round+cell Clinical Trials] that are researching new drugs to treat the disease. Because of the similarities with Ewing's sarcoma patients with desmoplastic small round cell tumor are often eligible for the same [http://clinicaltrials.gov/ct/search;jsessionid=02FC8CB5C264B5EDA4241C488BFFAC8F?term=Ewing%27s+sarcoma Clinical Trials].
*There is no standard protocol for desmoplastic small round cell tumor; however, recent journals and studies have reported that some patients respond to high-[[dose]] (P6 Protocol) [[chemotherapy]], maintenance [[chemotherapy]], [[debulking procedure]], cytoreductive [[surgery]], and [[radiotherapy|radiation therapy]].
*Other treatment options for desmoplastic small round cell tumor include [[stem cell transplant|hematopoietic stem cell transplantation]], intensity-modulated [[radiation therapy]], [[radiofrequency ablation]], stereotactic body [[radiation therapy]], [[intraperitoneal hyperthermic chemoperfusion]], and [[clinical trials]].


==References==
==References==
{{reflist|2}}


* [http://www.stjude.org/disease-summaries/0,2557,449_2167_7502,00.html Disease Summary] at [[St. Jude Children's Research Hospital]]
* {{cite journal |author=Pickhardt PJ, Fisher AJ, Balfe DM, Dehner LP, Huettner PC |title=Desmoplastic small round cell tumor of the abdomen: radiologic-histopathologic correlation |journal=Radiology |volume=210 |issue=3 |pages=633-8 |year=1999 |pmid=10207460 |doi= |url=http://radiology.rsnajnls.org/cgi/content/full/210/3/633}}
* [http://www.mayoclinic.org/desmoplastic-tumors/ Treatment of Desmoplastic Tumors] at [[Mayo Clinic]]
* [http://www.dsrct.com/JPS%20Article.pdf Results of multimodal treatment for desmoplastic small round cell tumors]
* [http://www.dsrct.com Desmoplastic Small Round Cell Tumor]
* [http://www.cytojournal.com/content/2/1/6/ CytoJournal:Desmoplastic small round cell tumour: Cytological and immunocytochemical features]
* {{cite journal |author=Gerald WL, Miller HK, Battifora H, Miettinen M, Silva EG, Rosai J |title=Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals |journal=Am. J. Surg. Pathol. |volume=15 |issue=6 |pages=499-513 |year=1991 |pmid=1709557 |doi=}}
* {{cite journal |author=Slomovitz BM, Girotra M, Aledo A, ''et al'' |title=Desmoplastic small round cell tumor with primary ovarian involvement: case report and review |journal=Gynecol. Oncol. |volume=79 |issue=1 |pages=124-8 |year=2000 |pmid=11006044 |doi=10.1006/gyno.2000.5829}}
==Alternative Names==
This disease is also known as: [[Desmoplastic]] small round blue cell tumor; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic cancer; Desmoplastic [[sarcoma]]; DSRCT.
There is no connection to [[mesothelioma]] which is another disease sometimes described as desmoplasic.
== External links ==
* [http://www.dsrct.com Desmoplastic Small Round Cell Tumor]
* [http://health.groups.yahoo.com/group/DSRCT Yahoo Groups! DSRCT Desmoplastic Small Round Cell Tumor]
* [http://scratchpad.wikia.com/wiki/DSRCT Wiki:DSRCT]
*[http://www.thedoctorsdoctor.com/diseases/desmoplastic_srbct.htm Desmoplastic Small Round Blue Cell Tumor]
{{Soft tissue tumors and sarcomas}}
{{SIB}}
[[Category:Types of cancer]]
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Omer Kamal, M.D.[2], Sujit Routray, M.D. [3]

Synonyms and keywords: Desmoplastic small round cell tumour; Desmoplastic small round blue cell tumor; Desmoplastic small round blue cell tumour; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic cancer; Desmoplastic sarcoma; DSRCT; Mesothelioblastoma; Polyphenotypic small round cell tumor

Overview

Desmoplastic small round cell tumor is an extremely rare, highly aggressive, and malignant neoplasm initially reported by Gerald and Rosai in 1989. The pathogenesis or histogenesis of desmoplastic small round cell tumor is uncertain; it mainly occurs in adolescents and mostly involves the abdominal and/or pelvic peritoneum. Moreover, it was also reported in epididymis, pleura, soft tissues, bone, ovary, and kidney. The diagnosis can be confirmed by histological and immunohistochemistry studies. CT scan is the most widely used diagnostic modality; abdominopelvic site was the commonest presentation and the disease can occur at other nonserosal surfaces also. Despite multimodality treatments, optimal treatment strategies remain controversial and the prognosis is poor. Current multimodality treatment rarely achieves cure and prolongs life. Here, we described 12 cases of abdominal DSRCT and retrospectively analyzed its clinical, radiological, and biopathological features, highlighting the modalities of treatment

Historical Perspective

Desmoplastic small round cell tumor was first described by pathologists, William L. Gerald and Juan Rosai, in 1989.[1] but as a distinct entity in 1991.[2]

Pathophysiology

Pathogenesis

Desmoplastic small round cell tumor is a highly aggressive, rare tumor of mesenchymal origin whose oncogenic effect is presumed to originate from the unique chromosomal translocation t(11;22)(p13:q12), leading to the fusion of the N-terminal domain of Ewing’s sarcoma gene EWS, to the C-terminal domain of Wilms’ tumor suppressor gene, WT1, which is found in most but not all desmoplastic small round cell tumors.[3]

Genetics

Desmoplastic small round cell tumor is associated with a unique chromosomal translocation t(11;22)(p13:q12), resulting in an EWS/WT1 transcript that is diagnostic of this tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth. The EWS/WT1 translocation product targets ENT4. ENT4 is also known as PMAT.[4][5]

Associated Conditions

There may be a chimeric relationship between desmoplastic small round cell tumor, and Wilms' tumor and Ewing's sarcoma. Together with neuroblastoma and non-Hodgkin's lymphoma, they form the small cell tumors.[5][6]

Microscopic Pathology

On microscopic histopathological analysis, desmoplastic small round cell tumor is characterized by:[7][8]

  • Broad bands of paucicellular fibrous stroma
  • Small round cells in nests with an undulating sharp border

Immunohistochemistry

Desmoplastic small round cell tumor is demonstrated by positivity to tumor markers, such as:[1][7]

Causes

Common causes of desmoplastic small round cell tumor include genetic mutations. A chromosomal translocation, t(11;22)(p13:q12) resulting in an EWS/WT1 transcript, may result in formation of desmoplastic small round cell tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth. The EWS/WT1 translocation product targets ENT4. ENT4 is also known as PMAT.[6]

Differentiating Desmoplastic Small Round Cell Tumor from other Diseases

  • In males, desmoplastic small round cell tumor may be mistaken for testicular germ cell tumor while in females, desmoplastic small round cell tumor may be mistaken for ovarian cancer.
  • Desmoplastic small round cell tumor must be differentiated from other small-round blue cell cancers, such as:[9]

Epidemiology and Demographics

Incidence

  • Age-adjusted incidence rate of desmoplastic small round cell tumor for African Americans and Caucasians is 0.05 and 0.02 per 100,000 individuals, respectively.[3]
  • The overall age-adjusted incidence rate of desmoplastic small round cell tumor is 0.03 per 100,000 individuals, with a peak incidence of 0.074 per 100,000 individuals in the 20–24 years of age group.[3]

Age

  • Desmoplastic small round cell tumor is a rare disease that tends to affect children and young adults.
  • Peak age of incidence for desmoplastic small round cell tumor is between 20 and 24 years.[3]

Gender

Males are more commonly affected with desmoplastic small round cell tumor than females. The male to female ratio is approximately 4 to 1.[3]

Race

Desmoplatic small round cell tumor usually affects individuals of the African American and Caucasian race. Latin American and Asian individuals are less likely to develop desmoplatic small round cell tumor.[3]

Risk Factors

There are no established risk factors for desmoplastic small round cell tumor

Natural History, Complications, and Prognosis

Natural History

Because the disease can be misdiagnosed or remain undetected, tumors frequently grow large within the abdomen and metastasize or seed to other parts of the body.

Complications

Complications of desmoplastic small round cell tumor include:[10]

Prognosis

  • The prognosis for desmoplastic small round cell tumor remains poor and depends upon the stage of the cancer.
  • The 5-year overall survival rate of patients with desmoplastic small round cell tumor is approximately 15%.[11]

Diagnosis

The diagnosis constitutes [12]

Symptoms

  • There are few early warning signs that a patient has a desmoplastic small round cell tumor.
  • Patients are often young and healthy as the tumors grow and spread uninhibited within the abdominal cavity. These are rare tumors and the symptoms are often misdiagnosed by physicians. The abdominal lump may grow to enormous size before being noticed by the patient.

Common Symptoms

Common symptoms of desmoplastic small round cell tumor include:

Less Common Symptoms

Less common symptoms of desmoplastic small round cell tumor include:

Physical Examination

Common physical examination findings of desmoplastic small round cell tumor include:[13]

CT

MRI

  • MRI may helpful in delineating the extent of desmoplastic small round cell tumor, if surgery is considered.[8]
  • On MRI, desmoplastic small round cell tumor is characterized by hypo- to isointensity on T1-weighted images. On contrast administration, it has a heterogenous enhancement, due to the fibrous stroma and degenerative features including necrosis, hemorrhage, and calcification.

Treatment

Treatment includes[12]

References

  1. ↑ 1.0 1.1 Zhang G, Liu G, Zhao D, Cui X, Li G (2014). "Desmoplastic small round cell tumor of the abdomen and pelvis: clinicopathological characters of 12 cases". ScientificWorldJournal. 2014: 549612. doi:10.1155/2014/549612. PMC 4060500. PMID 24987737.
  2. ↑ Mora J, Modak S, Cheung NK, Meyers P, de Alava E, Kushner B, Magnan H, Tirado OM, Laquaglia M, Ladanyi M, Rosai J (2015). "Desmoplastic small round cell tumor 20 years after its discovery". Future Oncol. 11 (7): 1071–81. doi:10.2217/fon.15.32. PMID 25804122.
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Lettieri CK, Garcia-Filion P, Hingorani P (2014). "Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database". J Cancer Epidemiol. 2014: 680126. doi:10.1155/2014/680126. PMC 4238280. PMID 25431592.
  4. ↑ Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM (November 2016). "A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease". Hum. Genomics. 10 (1): 36. doi:10.1186/s40246-016-0092-0. PMC 5116179. PMID 27863505.
  5. ↑ 5.0 5.1 de Marcellus C, Sarnacki S, Pierron G, Ranchère-Vince D, Scalabre A, Bolle S, Minard-Colin V, Corradini N, Fayard C, Orbach D (May 2018). "[Desmoplastic small round cell tumor in children, adolescents and young adults]". Bull Cancer (in French). 105 (5): 523–536. doi:10.1016/j.bulcan.2018.01.014. PMID 29576221.
  6. ↑ 6.0 6.1 Causes of desmoplastic small round cell tumor. <ref name="pmid27863505">Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM (November 2016). "A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease". Hum. Genomics. 10 (1): 36. doi:10.1186/s40246-016-0092-0. PMC 5116179. PMID 27863505.
  7. ↑ 7.0 7.1 Thway K, Noujaim J, Zaidi S, Miah AB, Benson C, Messiou C, Jones RL, Fisher C (December 2016). "Desmoplastic Small Round Cell Tumor: Pathology, Genetics, and Potential Therapeutic Strategies". Int. J. Surg. Pathol. 24 (8): 672–684. doi:10.1177/1066896916668637. PMID 27621277.
  8. ↑ 8.0 8.1 8.2 Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH (February 2012). "Imaging of desmoplastic small round cell tumour in adults". Br J Radiol. 85 (1010): 187–92. doi:10.1259/bjr/57186741. PMC 3473944. PMID 22128126.
  9. ↑ 9.0 9.1 Wakahashi S, Sudo T, Ichida K, Sugita S, Hasegawa T, Nagao S, Yamaguchi S, Sakuma T, Yamada H (May 2016). "Diagnosis of desmoplastic small-round-cell tumor by cytogenetic analysis: a case report". Clin Case Rep. 4 (5): 520–3. doi:10.1002/ccr3.558. PMC 4856250. PMID 27190620.
  10. ↑ Nabi S, Saste A, Gulati R (2015). "A Rare Case of Metastatic Desmoplastic Small Round Cell Tumour: Diagnosis and Management". Case Rep Oncol Med. 2015: 925453. doi:10.1155/2015/925453. PMC 4546747. PMID 26347069.
  11. ↑ Subbiah V, Lamhamedi-Cherradi SE, Cuglievan B, Menegaz BA, Camacho P, Huh W, Ramamoorthy V, Anderson PM, Pollock RE, Lev DC, Qiao W, McAleer MF, Benjamin RS, Patel S, Herzog CE, Daw NC, Feig BW, Lazar AJ, Hayes-Jordan A, Ludwig JA (October 2018). "Multimodality Treatment of Desmoplastic Small Round Cell Tumor: Chemotherapy and Complete Cytoreductive Surgery Improve Patient Survival". Clin. Cancer Res. 24 (19): 4865–4873. doi:10.1158/1078-0432.CCR-18-0202. PMID 29871905.
  12. ↑ 12.0 12.1 Hayes-Jordan A, LaQuaglia MP, Modak S (October 2016). "Management of desmoplastic small round cell tumor". Semin. Pediatr. Surg. 25 (5): 299–304. doi:10.1053/j.sempedsurg.2016.09.005. PMC 5614508. PMID 27955733.
  13. ↑ Abu-Zaid A, Azzam A, Alnajjar A, Al-Hussaini H, Amin T (2013). "Desmoplastic small round cell tumor of stomach". Case Rep Gastrointest Med. 2013: 907136. doi:10.1155/2013/907136. PMC 3690222. PMID 23840979.

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