/familial rhabdoid tumor

familial rhabdoid tumor

Rare Disease

MONDO:0016473

Also Known As

RTPSfamilial posterior fossa brain tumor syndrome of infancyfamilial posterior fossa brain tumour syndrome of infancyfamilial rhabdoid tumorhereditary rhabdoid tumorhereditary rhabdoid tumourrhabdoid predisposition syndromerhabdoid tumor predisposition syndromerhabdoid tumour predisposition syndrome

Definition

A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.