Rhabdoid predisposition syndrome

601607 , 609322 , 13325

C563738; C567643

231108 Familial rhabdoid tumor

-

the following observations have suggested that a new cancer-prone disease, related to the gene hSNF5\/INI, could be delineated:

two siblings with a paravertebral malignant rhabdoid tumor in the first year of life and a poor outcome; no family history;

renal rhabdoid tumors associated with tumors of the central nervous system in a given patient

germ-line mutations of INI1 identified in four children, three with renal rhabdoid tumors and one with an atypical teratoid tumor of the brain (out of 18 atypical teratoid and rhabdoid tumors studied)

and 4 recent pedigrees with - malignant rhabdoid tumor, choroid plexus carcinoma, atypical teratoid tumor, medulloblastoma, and\/or primitive neuroectodermal tumor, - either occurring in sibs or in a given patient, - with a INI1 point mutation in the tumor DNA and loss of wild type allele and\/or heterozygosity for the mutation in constitutional DNA

no apparent stigmata

malignant rhabdoid tumors and atypical teratoid tumors, choroid plexus carcinomas, medulloblastomas, and primitive neuroectodermal tumors; highly aggressive tumors; very early onset in children or infants, and, apparently , high penetrance

SNF5\/INI1

found in this syndrome

mutation and allele loss events in sporadic rhabdoid tumors, primitive neurectodermal tumors, medulloblastoma, or choroid plexus carcinoma are in accordance with the two-hit model for neoplasia, as is found in retinoblastoma

593871 SMARCB1