All things rhabdoid and smarc: An enigmatic exploration with dr. Louis P. Dehner

Over the past several decades, our understanding of malignant rhabdoid tumors (MRT) and the central nervous system equivalent Atypical Teratoid / Rhabdoid Tumor (ATRT) has undergone considerable refinement, particularly in terms of genetic characterization. MRT (both renal and extra-renal) and ATRT share phenotypic similarities and a common genetic signature, that being inactivating alterations of the SWI/SNF complex component SMARCB1 (or rarely SMARCA4). Unfortunately, a wide array of tumors bears significantly overlapping phenotypic characteristics to MRT/ATRT, posing a formidable diagnostic challenge.
Source: Seminars in Diagnostic Pathology - Category: Pathology Authors: Source Type: research