Malignant rhabdoid tumor

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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]
  • 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

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
  • Symptoms of malignant rhabdoid tumor of kidney include:[10]
  • 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]

References

  1. Malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
  2. Malignant rhabdoid tumour. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Malignant_rhabdoid_tumour. Accessed on December 23, 2015
  3. Genetics of malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
  4. 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. 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
  6. IHC of extrarenal malignant rhabdoid tumour. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Malignant_rhabdoid_tumour. Accessed on December 23, 2015
  7. 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
  8. DDx of extrarenal malignant rhabdoid tumour. Libre pathology 2015. http://librepathology.org/wiki/index.php/Extrarenal_malignant_rhabdoid_tumour. Accessed on December 23, 2015
  9. 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. 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
  11. 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. ISSN 2090-6846. doi:10.1155/2014/950869. 
  12. 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. PMC 4387326Freely accessible. PMID 25918621. doi:10.4081/pr.2015.5578. 
  13. 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

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