Malignant rhabdoid tumor
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Synonyms and keywords: Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor
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.[1]
- Malignant rhabdoid tumor was first described as a variant of Wilms' tumor of the kidney, in 1978.
- Malignant rhabdoid tumor is classified into two groups: renal and extrarenal.[2]
- 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.
- Gene involved in the pathogenesis of malignant rhabdoid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.
- 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.
- Malignant rhabdoid tumor may be associated with rhabdoid predisposition syndrome.[3]
- Common locations associated with malignant rhabdoid tumor include:[4]
- Kidney: malignant rhabdoid tumor of the kidney (most common)
- Intracranial: atypical teratoid rhabdoid tumor
- Soft tissues: breast, skin, orbit, liver, etc
- On gross pathology, malignant rhabdoid tumor of the kidney is characterized by large, centrally located, heterogeneous soft-tissue masses involving the renal hilum with indistinct margins.[5]
- On microscopic histopathological analysis, 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.
- Malignant rhabdoid tumor is demonstrated by positivity to tumor markers such as vimentin, EMA, AE1/AE3, and CAM5.2.[6]
- Renal malignant rhabdoid tumor must be differentiated from renal cell carcinoma, Wilms' tumor, mesonephric nephroma, and primitive neuroectodermal tumor of the kidney.[7]
- Extrarenal malignant rhabdoid tumor must be differentiated from desmoplastic small round cell tumor, rhabdomyosarcoma, and other soft tissue tumors.[8]
- Almost all reported cases of malignant rhabdoid tumor, regardless of site of origin, occur in young children between birth and 2 years of age.[9]
- In approximately 10% of cases of renal malignant rhabdoid tumor, the patients subsequently develop intracranial atypical teratoid rhabdoid tumor.
- Common complication of malignant rhabdoid tumor include hypercalcemia, secondary to elevated parathyroid hormone levels.[10]
- Prognosis is generally poor, with a reported mortality rate of patients with malignant rhabdoid tumor is 80 to 100%.[11]
- According to the Children’s Oncology Group (COG) staging system, there are 5 stages of malignant rhabdoid tumor.
Staging | Characteristic findings |
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Stage I |
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Stage II |
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Stage III |
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Stage IV |
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Stage V |
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- Symptoms of malignant rhabdoid tumor of kidney include:[10]
- Blood in urine
- Flank mass
- Fever
- Laboratory findings consistent with the diagnosis of malignant rhabdoid tumor include:[12]
- 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.[5]
- The predominant therapy for malignant rhabdoid tumor is surgical resection. Adjunctive chemotherapy may be required.[13]
Differentiating malignant rhabdoid tumor from other diseases
S.No. | Disease | Symptoms | Signs | Diagnosis | Comments | |||||
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Abdominal Pain | Hematuria | Headache | Abdominal mass | Abdominal tenderness | Ultrasonography | CT scan | Histology | |||
1. | Wilms tumor | + | + | - | + | + |
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2. | Renal cell carcinoma | + | + | +/- | + | - |
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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. | |
3. | Rhabdoid kidney disease | + | + | - | + | - |
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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:[18][19] |
Renal CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:
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5. | Pheochromocytoma | - | - | + (as a part of the hypertension paroxysm) | - | - |
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The following findings may be observed on CT scan:[24]
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6. | Burkitt lymphoma | +/- (in non-endemic or sporadic form of the disease) | - | - | - | - |
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7. | Intussusception | + | - | - | +/- | + |
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8. | Hydronephrosis | + | +/- | - | - | + (CVA tenderness in case of pyelonephritis) |
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9. | Dysplastic kidney | N/A | N/A | N/A | N/A | N/A |
MCDK is usually diagnosed by ultrasound examination before birth.
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10. | Pediatric Neuroblastoma | + | - | - | +/- | +/- |
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11. | Pediatric Rhabdomyosarcoma | + | +/- | +/- | - | +/- | On CT scan, rhabdomyosarocma is characterized by:
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12. | Mesoblastic nephroma | + | + | - | + | - |
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Classic mesoblastic nephroma
Cellular mesoblastic nephroma
Mixed mesoblastic nephroma
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Most common renal tumor that occurs in 1st month of life |
References
- ↑ Malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
- ↑ Malignant rhabdoid tumour. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Malignant_rhabdoid_tumour. Accessed on December 23, 2015
- ↑ Genetics of malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
- ↑ 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
- ↑ 5.0 5.1 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
- ↑ IHC of extrarenal malignant rhabdoid tumour. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Malignant_rhabdoid_tumour. Accessed on December 23, 2015
- ↑ 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
- ↑ DDx of extrarenal malignant rhabdoid tumour. Libre pathology 2015. http://librepathology.org/wiki/index.php/Extrarenal_malignant_rhabdoid_tumour. Accessed on December 23, 2015
- ↑ 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
- ↑ 10.0 10.1 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
- ↑ Madan, Karan; Bal, Amanjit; Agarwal, Ritesh; Das, Ashim (2014). "Malignant Extra Renal Rhabdoid Tumour Presenting as Central Airway Obstruction". Case Reports in Pulmonology. 2014: 1–4. doi:10.1155/2014/950869. ISSN 2090-6846.
- ↑ Oita S, Terui K, Komatsu S, Hishiki T, Saito T, Mitsunaga T; et al. (2015). "Malignant rhabdoid tumor of the liver: a case report and literature review". Pediatr Rep. 7 (1): 5578. doi:10.4081/pr.2015.5578. PMC 4387326. PMID 25918621.
- ↑ 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
- ↑ Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
- ↑ De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
- ↑ Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
- ↑ Whalen RK, Althausen AF, Daniels GH (1992). "Extra-adrenal pheochromocytoma". J Urol. 147 (1): 1–10. PMID 1729490.
- ↑ 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.
- ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
- ↑ Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015
- ↑ 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
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ignored (help) - ↑ 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.
- ↑ Boyle MJ, Arkell LJ, Williams JT (1993). "Ultrasonic diagnosis of adult intussusception". Am. J. Gastroenterol. 88 (4): 617–8. PMID 8470658.
- ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
- ↑ Colon NC, Chung DH (2011). "Neuroblastoma". Adv Pediatr. 58 (1): 297–311. doi:10.1016/j.yapd.2011.03.011. PMC 3668791. PMID 21736987.
- ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
- ↑ Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015
- ↑ Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma