Rhabdoid Tumor Predisposition Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant-inherited neoplastic predisposition syndrome caused by mutation(s) in the SMARCB1 or SMARCA4 genes. It is characterized by the development of atypical teratoid/rhabdoid tumors 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.

**Synonyms:** - Familial Posterior Fossa Brain Tumor Syndrome of Infancy - Rhabdoid Predisposition Syndrome