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Familial rhabdoid tumor

MONDO:0016473

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.

Also known as: RTPS, familial posterior fossa brain tumor syndrome of infancy, familial posterior fossa brain tumour syndrome of infancy, familial rhabdoid tumor, hereditary rhabdoid tumor, hereditary rhabdoid tumour, rhabdoid predisposition syndrome, rhabdoid tumor predisposition syndrome

2844 clinical trials for this condition and its sub-types, 0 tagged with Familial rhabdoid tumor itself.

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