Translocations at 8q24 juxtapose MYC with genes that harbor superenhancers resulting in overexpression and poor prognosis in myeloma patients

• DOI: 10.1038/bcj.2014.13
• Publication Date: 2014-03-14T14:21:54Z
• Authors: B A Walker; C P Wardell; A Brioli; E Boyle; M F Kaiser; D B Begum; N B Dahir; D C Johnson; F M Ross; F E Davies; G J Morgan
• Keywords: Pathogenesis; Breakpoint

Secondary MYC translocations in myeloma have been shown to be important the pathogenesis and progression of disease. Here, we used a DNA capture massively parallel sequencing approach identify partner chromosomes 104 presentation samples. 8q24 breakpoints were identified 21 (20%) samples with loci including IGH, IGK IGL, which juxtapose immunoglobulin (Ig) enhancers next 8/23 The remaining had XBP1, FAM46C, CCND1 KRAS, are B-cell maturation or pathogenesis. Analysis region surrounding indicated presence superenhancers on gene expression analysis showed increased these Patients decreased progression-free overall survival. We postulate that translocation near result colocalization from loci, development cell type they occur. In case Ig those for plasma pathogenesis, resulting an aggressive disease phenotype.