malignant rhabdoid tumor
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Epidemiology
infancy and early childhood
median age: 11 mths
unbalanced sex ratio (1.5M/1F)
Synopsis
uncertain histogenesis
Localization
kidney
central nervous system
soft tissues
paratesticular region (14696145) (3 cases described - 2004)
mesentery (14507006)
Predisposition
rhabdoid tumor predisposition syndrome : constitutional mutation in the SMARCB1 (hSNF5/INI1) gene at 22q11.2 (MIM.601607)
Cytogenetics
normal karyotype
8q24 rearrangements
- t(8;13)(q24;q33) in a malignant rhabdoid tumor of the liver (10640148)
Molecular biology
LOH at 22q11.2
LOH at 11p15.5
inactivating mutation of the SMARCB1 (hSNF5/INI1) gene at 22q11.2 (MIM.601607)
Differential diagnosis
Prognosis
highly aggressive tumor
80% mortality rate with frequent metastases, predominantly pulmonary
better outcome for girls (> 50% survival) than for boys (10%) (one study)
