Atypical teratoid/rhabdoid tumors (AT/RT) are rare, high-grade, aggressive and frequently lethal tumors that occur most often in children age 3 and younger. Although usually a brain tumor, AT/RT can occur anywhere in the central nervous system including the spinal cord.
Deletions of the SMARCB1 (SNF5/INI1) gene which encodes a sub-unit of the SWI/SNF ATP-dependent chromatin-remodeling complex have been determined to play a vital role in development and progression of AT/RT.
Transgenic mouse models and cell lines with SMARCB1 mutations were created by researchers at the Center for Childhood Cancer Research. These laboratory models are currently being used to develop targeted cancer therapies and possible immunotherapeutic approaches to treat these rare but often fatal pediatric tumors.