Comprehensive DSRCT multi‐omics analyses unveil CACNA2D2 as a diagnostic hallmark and super‐enhancer‐driven EWSR1::WT1 signature gene

Abstract excerpt

Desmoplastic small round cell tumor (DSRCT) is an aggressive cancer that predominantly affects adolescents and young adults, typically developing at sites lined by mesothelium [1, 2]. DSRCT is genetically defined by a chromosomal translocation that fuses the N-terminus of EWS RNA binding protein 1 (EWSR1) to the C-terminus of Wilms tumor protein (WT1), forming EWSR1::WT1 [3]. This fusion encodes a potent...

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