Rhabdoid tumor predisposition syndrome (RTPS1; OMIM #609322, RTPS2; OMIM #613325) is a rare syndrome that can lead to highly-aggressive, atypical teratoid\/rhabdoid tumors (AT\/RT) of the central nervous system and to malignant rhabdoid tumors (MRT) of other \u2013 usually renal \u2013 tissues in very young children.<\/p>\n<\/div>
Synonym:<\/p>\n<\/div><\/div><\/div>
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Gene:<\/p>\n<\/div><\/div><\/div>
SMARCB1<\/em> (RTPS1), more rarely SMARCA4<\/em> (RTPS2)<\/p>\n<\/div><\/div><\/div><\/div> Gene\u00a0 \u00adproducts:<\/p>\n<\/div><\/div><\/div> SMARCB1 (also INI1 or BAF47), SMARCA4 (also BRG1)<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Part of the SWI\/SNF chromatin remodeling complex, which serves to restructure nucleosomes, thereby releasing binding sites for DNA-binding proteins to allow transcription, replication, and DNA repair.<\/p>\n<\/div><\/div><\/div><\/div> Pattern of inheritance: <\/p>\n<\/div><\/div><\/div> Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> Unknown Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div> SMARCB1: rhabdoid tumor (usually loss-of-function mutations, LOF), schwannomatosis (missense), multiple meningiomas (missense), Nicolaides\u2013Baraitser syndrome (missense), Coffin\u2013Siris syndrome (missense), malignant peripheral nerve sheath tumor (LOF)<\/p>\n SMARCA4: MRT (LOF), AT\/RT (LOF), small cell ovarian carcinoma, hypercalcemic type (LOF), Coffin-Siris syndrome (missense)<\/p>\n<\/div><\/div><\/div><\/div> Penetrance:<\/p>\n<\/div><\/div><\/div> Unknown; lower level of penetrance for AT\/RT with pathogenic SMARCA4<\/em> variants than with pathogenic SMARCB1 variants<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
\nIncidence of MRT: 0.6\/1 million children (5\/1 million in the first year of life; 0.04\/1 million at age 10-14)
\nIncidence of AT\/RT: 0.7\/1 million children (5.4\/1 million in the first year of life)<\/p>\n<\/div><\/div><\/div><\/div>