Upregulation of POLE and proficient DNA repair are features of CIC::DUX4 sarcomas.

CIC::DUX4 translocation-positive sarcomas (CDS) are rare, highly proliferative tumors associated with chemotherapy resistance. Without a clear understanding of the molecular pathways driving CDS, no effective treatment regimens have been developed. Here, we identify protection against DNA damage through upregulation of POLE and DNA repair pathways specific to CDS.

Revisiting CDKN2A dysregulation in Ewing sarcoma.

Ewing sarcoma (EwS) is a rare and aggressive malignancy, which frequently affects children. One of the few recurrent genomic variants in EwS is genomic copy number deletion of CDKN2A; however, the clinical consequences of dysregulation of CDKN2A in EwS are unclear. In this study, we revisit CDKN2A to investigate its role as a potential prognostic biomarker in EwS using data from EwS pre-clinical models as well as clinical samples from patients with EwS.