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malignant rhabdoid tumor

Thursday 20 November 2003



- infancy and early childhood
- median age: 11 mths
- unbalanced sex ratio (1.5M/1F)


- uncertain histogenesis


- kidney (renal malignant rhabdoid tumor)


- cystic malignant rhabdoid tumor (cystic MRT)


- rhabdoid tumor predisposition syndrome : constitutional mutation in the SMARCB1 (hSNF5/INI1) gene at 22q11.2 (MIM.601607)


- normal karyotype

- 22q11 anomalies (8818656)

- 8q24 rearrangements

- inv(11)(p13p15) (11004236)

Molecular biology

- LOH at 22q11.2
- LOH at 11p15.5
- inactivating mutation of the SMARCB1 (hSNF5/INI1) gene at 22q11.2 (MIM.601607)


- Germline mutations are found in 35% of apparently sporadic RT. (21208904)
- 20% of patients with germline mutation develop the disease after 2 years of age. (21208904)
- There is a very high proportion of germ-cell mosaicism or of de novo mutations in RPS (rhabdoid tumor predisposition syndrome). (21208904)
- The 2 years’ overall survival is 7% in mutated and 29% in wild-type patients, mainly due to the worse outcome of RT in younger patients. (21208904)
- There is a high proportion of germline mutations in patients with RT that can be found at any age and up to 60% in the youngest patients. (21208904)
- Genetic counseling is recommended given the low but actual risk of familial recurrence.

Differential diagnosis

- rhabdoid cell tumors


- highly aggressive tumor
- 80% mortality rate with frequent metastases, predominantly pulmonary
- better outcome for girls (> 50% survival) than for boys (10%) (one study)




- Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Bourdeaut F, Lequin D, Brugières L, Reynaud S, Dufour C, Doz F, André N, Stephan JL, Pérel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Fréneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O. Clin Cancer Res. 2011 Jan 1;17(1):31-8. PMID: 21208904 (Free)