Microhomology-mediated end joining drives complex rearrangements and overexpression of MYC and PVT1 in multiple myeloma.

ABSTRACT: MYC is a widely acting transcription factor and its deregulation is a crucial event in many human cancers. MYC is important biologically and clinically in multiple myeloma, but the mechanisms underlying its dysregulation are poorly understood. We show that MYC rearrangements are present in 36.0% of newly diagnosed myeloma patients, as detected in the largest set of next generation sequencing data to date (n=1,267). Rearrangements were complex and associated with increased expression of MYC and PVT1, but not other genes at 8q24. The highest effect on gene expression was detected in cases where the MYC locus is juxtaposed next to super-enhancers associated with genes such as IGH, IGK, IGL, TXNDC5/BMP6, FAM46C and FOXO3 We identified thr

SUBMITTER: Mikulasova A 

PROVIDER: S-EPMC7109748 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature