Rhabdomyosarcoma differential diagnosis: Difference between revisions

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* Neurospecific enolase markers for neuronal cells
* Neurospecific enolase markers for neuronal cells
* S-100 protein for sustentacular cells  
* S-100 protein for sustentacular cells  
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|[[Renal cell carcinoma]]
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|<nowiki>+/-</nowiki>
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* [[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|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.
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|[[Malignant rhabdoid tumor|Rhabdoid kidney disease]]
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* [[Ultrasound]] shows a complex cystic mass.
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* [[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.
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|[[Polycystic kidney disease]]
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|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+ (from hypertension)</nowiki>
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
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Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:<ref name="pmid25786098">{{cite journal |vauthors=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 |title=Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference |journal=Kidney Int. |volume=88 |issue=1 |pages=17–27 |date=July 2015 |pmid=25786098 |pmc=4913350 |doi=10.1038/ki.2015.59 |url=}}</ref><ref name="pmid18945943">{{cite journal |vauthors=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 |title=Unified criteria for ultrasonographic diagnosis of ADPKD |journal=J. Am. Soc. Nephrol. |volume=20 |issue=1 |pages=205–12 |date=January 2009 |pmid=18945943 |pmc=2615723 |doi=10.1681/ASN.2008050507 |url=}}</ref>
*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.<ref name="pmid12234310">{{cite journal |vauthors=Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC |title=Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families |journal=Kidney Int. |volume=62 |issue=4 |pages=1385–94 |date=October 2002 |pmid=12234310 |doi=10.1111/j.1523-1755.2002.kid581.x |url=}}</ref><ref name="pmid24509297">{{cite journal |vauthors=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 |title=Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 |journal=Clin J Am Soc Nephrol |volume=9 |issue=3 |pages=527–35 |date=March 2014 |pmid=24509297 |pmc=3944763 |doi=10.2215/CJN.06380613 |url=}}</ref><ref name="pmid21775974">{{cite journal |vauthors=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 |title=Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood |journal=Kidney Int. |volume=80 |issue=7 |pages=768–76 |date=October 2011 |pmid=21775974 |doi=10.1038/ki.2011.225 |url=}}</ref><ref name="pmid20378641">{{cite journal |vauthors=Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R |title=Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases |journal=Clin J Am Soc Nephrol |volume=5 |issue=6 |pages=1079–90 |date=June 2010 |pmid=20378641 |pmc=2879303 |doi=10.2215/CJN.06810909 |url=}}</ref>
|-
|[[Pheochromocytoma]]
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|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>+ (as a part of the hypertension paroxysm)</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
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* 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>
*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>
*In sporadic pheochromocytoma, [[CT]] and [[MRI]] are good choices. The choice depends on availability and cost.<ref name="pmid191248172">{{cite journal| author=Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT et al.| title=Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma. | journal=Ann Intern Med | year= 2009 | volume= 150 | issue= 1 | pages= 27-32 | pmid=19124817 | doi= | pmc=3490128 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19124817  }}</ref>
*In patients with the [[multiple endocrine neoplasia]] type 2 ([[Multiple endocrine neoplasia type 2|MEN2]]) syndrome, [[CT]] may miss the [[tumors]].<ref name="pmid17876522">{{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>
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* 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]].
|-
|-
|[[Burkitt's lymphoma|Burkitt lymphoma]]
|[[Burkitt's lymphoma|Burkitt lymphoma]]

Revision as of 15:25, 27 February 2019

Rhabdomyosarcoma Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Suveenkrishna Pothuru, M.B,B.S. [2]

Overview

Rhabdomyosarcoma must be differentiated from Ewing sarcoma, Lymphadenopathy, Neuroblastoma, Liposarcoma Osteosarcoma, Lymphoprofilerative disorders. Rhabdomyosarcoma of the orbit must be differentiated from other causes of orbital masses such as orbital pseudotumor, orbital tumors, orbital abscess, and vascular lesions.

Differential Diagnosis

  • Rhabdomyosarcoma must be differentiated from following diseases:
Disease History/demography Symptoms Physical examination Diagnosis
Palpable mass Pain Others Mass tenderness Others Genetics Imaging Histology
Rhabdomyosarcoma[1][2][3][4]
  • Most common soft tissue cancer among children and adolescents
  • The third most common extracranial solid tumors
  • Two-third of all cases happen under 6 years old
+ +
  • Skin changes
  • Respiratory difficulties
  • Vomitting
  • Hematuria
+/-
  • Fever
  • Erythmatous skin
  • Proptosis
  • Ophtalmoplasia
  • Dysconjugate gaze

Mutations in:

CT scan:
  • Soft tissue density
  • Enhancement with contrast
  • Bone destruction

Ultrasound:

  • Well-defined and irregular mass
  • Low to medium echogenicity

MRI:

  • T1:
    • Low to intermediate intensity
    • Hemorrhage areas are poresent in alveolar rhabdomyosarcoma
  • T2:
    • Hyperintense
    • Prominent flow voids are present in extremity lesions of rhabdomyosarcoma
  • T1 C+ (Gd):
    • Considerable enhancement
  • An appearance of round blue cell tumors
  • Myogenesis pathway has various types of differentiation
  • Positive immunohistochemical results for:
    • myoglobin
    • actin
    • desmin
    • Myogenin
Wilms tumor[5][6][7][8][9]
  • Also called nephroblastoma
  • The most common childhood abdominal malignancy
  • Average age of 3.5 years old
+ +
  • Hematuria
  • Respiratory symptoms ( due to lung metastases)
+/-
  • Fever
  • Hypertension/ hypotension
Present mutations of:
  • WT1
  • P53
  • FWT1
  • FWT2 11p15.5 loci
Ultrasound:

CT scan:

  • Heterogeneous soft-tissue density masses
  • Areas of calcification and fat-density regions
  • Arises from mesodermal precursors of the renal parenchyma
  • Well-circumscribed/ macrolobulated lesion
  • Hemorrhage/ central necrosis may be present
  • It is comprised of 3 types of cells:
Ewing sarcoma[10][11][12][13]
  • Include ewing sarcoma, askin tumor, and peripheral primitive neuroectodermal tumors
  • The second most common childhood malignant primary bone tumors
  • Usually arises in the long bones of the extremities
  • Common age between 10-20 years old
+ + Weight loss/ fatigue +
  • Fever
  • Pathologic fractures
  • Petachia/ purpura
  • Reciprocal translocation between chromosomes 11 and 22
Plain radiographic of region:
  • Poorly marginated destructive lesion
  • Permeative or "moth-eaten" appearance

CT scan:

  • Cortical destruction
  • Demonstrate soft tissue disease

MRI:

  • Considered as a preferred diagnostic study
  • Better shows tumor size/ intraosseous/extraosseous extent
  • Small/ round/ blue cell tumors
  • May be undifferentiated or differentiated,
  • Regular sized primitive appearing cells
Pediatric neuroblastoma [14][15][16][17]
  • Most common extracranial solid tumor of infancy
  • Arising from pluripotent sympathetic cells

Age distribution:

  • < 1 years old ( 40%)
  • 1-2 years old (35%)
  • > 2 years old (25%)

+ (Abdominal)

+
  • Constipation
  • Weakness
  • Diarrhea

+

(Abdominal)

  • Proptosis
  • Periorbital ecchymosis
  • Horner syndrome
  • Opsoclonus myoclonus syndrome
  • Chromosome1p deletion
  • N-myc amplification
CT scan:
  • Heterogeneous mass
  • Calcifications
  • Necrotic areas

MRI:

T1:

  • heterogeneous mass

T2:

  • heterogeneous/ hyperintense
  • cystic/necrotic areas

C+ (Gd):

  • Heterogeneous mass
  • Well defined/ infiltrative mass
  • Homer wright rosettes
  • Secretion of vanillylmandelic acid (VMA) and homovanillic acid (HVA)
Pediatric pheochromocytoma[18][19][20][21]
  • Rare catecholamine-secreting tumor
  • Occur in both children and adults
  • Average age of 11 years old
  • Associated with neurofibromatosis, von Hippel-Lindau disease, tuberous sclerosis, Sturge-Weber syndrome, and multiple endocrine neoplasia (MEN) syndromes
- +/-
  • Headache
  • sweating
  • Weakness
  • Convulsion
-
  • Hypertension
  • Tachycardia
  • Pallor face
Genetic mutation in:
  • NF1
  • RET
  • VHL
  • SDHD
  • SDHC
  • EGLN1
  • EGLN2
  • KIF1B
  • SDHAF2
  • TMEM127
  • SDHA
  • IDH1
  • SDHB
  • MAX
  • HIF2A
  • FH
Ultrasound:

Different appearance from solid to mixed cystic or solid to cystic

CT scan:

Large and heterogenous

Calcification

Necrosis

Cystic changes

MRI:

Use for tumors located outside the adrenal

T1:

Heterogenous enhancement

Hypointense

T2:

Hyperintense

T1 C+ (Gd):

Heterogenous enhancement

  • Zellballen pattern on microscopy
  • Well-defined clusters
  • Eosinophilic cytoplasm

Positive stains for:

  • Chromogranin for zellballlen cells
  • Neurospecific enolase markers for neuronal cells
  • S-100 protein for sustentacular cells
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.[22]
  • On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:[23]
  • 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
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.
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.
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.[24]
  • 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

References

  1. Egas-Bejar D, Huh WW (2014). "Rhabdomyosarcoma in adolescent and young adult patients: current perspectives". Adolesc Health Med Ther. 5: 115–25. doi:10.2147/AHMT.S44582. PMC 4069040. PMID 24966711.
  2. Dasgupta R, Fuchs J, Rodeberg D (2016). "Rhabdomyosarcoma". Semin Pediatr Surg. 25 (5): 276–283. doi:10.1053/j.sempedsurg.2016.09.011. PMID 27955730.
  3. Park K, van Rijn R, McHugh K (2008). "The role of radiology in paediatric soft tissue sarcomas". Cancer Imaging. 8: 102–15. doi:10.1102/1470-7330.2008.0014. PMC 2365455. PMID 18442956.
  4. Shern JF, Yohe ME, Khan J (2015). "Pediatric Rhabdomyosarcoma". Crit Rev Oncog. 20 (3–4): 227–43. PMC 5486973. PMID 26349418.
  5. Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
  6. De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
  7. Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
  8. Coppes MJ, Pritchard-Jones K (2000). "Principles of Wilms' tumor biology". Urol Clin North Am. 27 (3): 423–33, viii. PMID 10985142.
  9. Davidoff AM (2012). "Wilms tumor". Adv Pediatr. 59 (1): 247–67. doi:10.1016/j.yapd.2012.04.001. PMC 3589819. PMID 22789581.
  10. Burchill SA (2003). "Ewing's sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities". J Clin Pathol. 56 (2): 96–102. PMC 1769883. PMID 12560386.
  11. Maygarden SJ, Askin FB, Siegal GP, Gilula LA, Schoppe J, Foulkes M; et al. (1993). "Ewing sarcoma of bone in infants and toddlers. A clinicopathologic report from the Intergroup Ewing's Study". Cancer. 71 (6): 2109–18. PMID 8443760.
  12. Panicek DM, Gatsonis C, Rosenthal DI, Seeger LL, Huvos AG, Moore SG; et al. (1997). "CT and MR imaging in the local staging of primary malignant musculoskeletal neoplasms: Report of the Radiology Diagnostic Oncology Group". Radiology. 202 (1): 237–46. doi:10.1148/radiology.202.1.8988217. PMID 8988217.
  13. Grünewald TGP, Cidre-Aranaz F, Surdez D, Tomazou EM, de Álava E, Kovar H; et al. (2018). "Ewing sarcoma". Nat Rev Dis Primers. 4 (1): 5. doi:10.1038/s41572-018-0003-x. PMID 29977059.
  14. Lonergan GJ, Schwab CM, Suarez ES, Carlson CL (2002). "Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: radiologic-pathologic correlation". Radiographics. 22 (4): 911–34. doi:10.1148/radiographics.22.4.g02jl15911. PMID 12110723.
  15. Golden CB, Feusner JH (2002). "Malignant abdominal masses in children: quick guide to evaluation and diagnosis". Pediatr Clin North Am. 49 (6): 1369–92, viii. PMID 12580370.
  16. Angstman KB, Miser JS, Franz WB (1990). "Neuroblastoma". Am Fam Physician. 41 (1): 238–44. PMID 2403727.
  17. Musarella MA, Chan HS, DeBoer G, Gallie BL (1984). "Ocular involvement in neuroblastoma: prognostic implications". Ophthalmology. 91 (8): 936–40. PMID 6493702.
  18. Leung K, Stamm M, Raja A, Low G (2013). "Pheochromocytoma: the range of appearances on ultrasound, CT, MRI, and functional imaging". AJR Am J Roentgenol. 200 (2): 370–8. doi:10.2214/AJR.12.9126. PMID 23345359.
  19. Stein PP, Black HR (1991). "A simplified diagnostic approach to pheochromocytoma. A review of the literature and report of one institution's experience". Medicine (Baltimore). 70 (1): 46–66. PMID 1988766.
  20. Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  21. Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  22. Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015
  23. 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)
  24. Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma

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