Impact of Rare Structural Variant Events in Newly Diagnosed Multiple Myeloma.

ABSTRACT:

Purpose

Whole-genome sequencing (WGS) of patients with newly diagnosed multiple myeloma (NDMM) has shown recurrent structural variant (SV) involvement in distinct regions of the genome (i.e., hotspots) and causing recurrent copy-number alterations. Together with canonical immunoglobulin translocations, these SVs are recognized as "recurrent SVs." More than half of SVs were not involved in recurrent events. The significance of these "rare SVs" has not been previously examined.

Experimental design

In this study, we utilize 752 WGS and 591 RNA sequencing data from patients with NDMM to determine the role of rare SVs in myeloma pathogenesis.

Results

Ninety-four percent of patients harbored at least one rare SV event. Rare SVs showed an SV class-specific enrichment within

SUBMITTER: Chojnacka M 

PROVIDER: S-EPMC10841766 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature