ASH 2020 | Revealing the transcriptional impact of key genomic drivers in myeloma

Niccolò Bolli, MD, PhD, University of Milan, ltaly discusses the findings of an analysis of geno-transcriptomic links in multiple myeloma patients. Next-generation sequencing has revealed clonal heterogeneity as a hallmark of multiple myeloma biology, but data on the impact that rare mutations, copy number aberrations (CNAs), and chromosomal rearrangements (CRs) on a transcriptional level is lacking. The study analyzed over 500 MM patients, aiming to evaluate the transcriptional deregulation promoted by these genomic drivers. Overall, Chr(1q)amplification/gain, IgH translocations and hyperdiploidy created the most transcriptional deregulation. Analyses suggested CNAs and CRs have a greater impact on gene expression than mutations. However, biallelic inactivation was of huge transcriptional value. Improved understanding of heterogeneity has clinical implications through both biomarker and drug target identification. This interview took place during the 62nd American Society of Hematology (ASH) Annual Meeting and Exposition, 2020.