Multiomic mapping of aberrations on chromosome 1 in myeloma скачать в хорошем качестве

Multiomic mapping of aberrations on chromosome 1 in myeloma

Chromosome 1(chr1) copy number abnormalities (CNAs) are seen in approximately 40% of multiple myeloma cases and are associated with a poor prognosis. Structural variants are also known to associate with adverse clinical outcomes and a wide range of potential causal genes have been studied. Gareth Morgan, MD, PhD, FRCP, FRCPath, Perlmutter Cancer Center, NYU Langone Health, New York, NY, discusses the findings of a multiomic analysis of chr1 aberrations and how they relate to chromatin structure. Whole exome and whole genome sequencing data from over 1100 patients who participated in the CoMMpass trial (NCT01454297) was used to analyze mutations, copy number alterations, translocations, and complex rearrangements. CNA hotspots were identified and combined with RNA-sequencing data from 643 patients to determine the transcriptional landscape of chr1. Hotspots were identified across chr1, not just in one region. It was shown that gained regions were hypomethylated compared to the rest of chr1, highlighting the importance of active chromatin in gene deregulation. The study was able to create a detailed map of chr1 and the relationships of structural variants to epigenetic, expression and mutation status. This interview took place at the 63rd ASH Annual Meeting and Exposition congress in Atlanta, GA.