Introduction
Pertubations of the SWI/SNF complex are common oncogenic events. The
acquired loss of its core subunit member SMARCB1 drives an expanding
spectrum of intra- and extracranial tumors, some characterized by
rhabdoid features including atypical teratoid/rhabdoid tumor (ATRT), and
others without such features, e. g. cribriform neuroepithelial tumor
(CRINET), poorly differentiated chordoma, desmoplastic myxoid tumor,
sinunasal undifferentiated carcinoma, epithelioid sarcoma, and renal
medullary carcinoma. Distinct heterozygous SMARCB1 germline
mutations cause Rhabdoid Tumor Predisposition Syndrome Type 1 (RTPS1),
schwannomatosis, or Coffin-Siris syndrome. Although overlap has been
reported, a genotype phenotype correlation exists with certain proximal
and intronic mutations linked to schwannomatosis, distal missense
mutation to Coffin-Siris, and truncating mutations to
RTPS11.