Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1
Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly arising in young children . Biallelic mutations of the SWI/SNF chromatin remodeling complex members SMARCB1 or (rarely) SMARCA4 are the only recurrent genetic alterations [1, 2]. The pathogenesis follows a classical two-hit model and heterozygous germline mutations of SMARCB1 (associated with rhabdoid tumor predisposition syndrome 1) or SMARCA4 (rhabdoid tumor predisposition syndrome 2) constitute the first hit in up to 35% of cases . While ATRT is a remarkably homogenous disease on a genetic level, DNA methylation profiles, enhancer landscapes and subgroup-specific transcriptional networks separate ATRT into three distinct molecular subgroups, i.e., ATRT-SHH, ATRT-TYR and ATRT-MYC [3, 4, 5]. These subgroups differ with regard to the age of onset, tumor location and imaging features [3, 4, 5, 6]. As there may also be differences in response to different therapies and overall survival ,...
MH is supported by DFG (HA 3060/8-1).
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