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.