Genome-wide copy number profiling enhances risk stratification in multiple myeloma by shallow whole-genome sequencing.

ABSTRACT:

Abstract

Comprehensive detection of copy number aberrations (CNAs) is critical for precise prognostic risk stratification in multiple myeloma (MM), yet conventional cytogenetic methods remain limited. We developed LeukoPrint, a shallow whole-genome sequencing (sWGS) assay for genome-wide CNA profiling. Using this platform, we analyzed CNA profiles of 423 patients with MM across 3 hospitals and compared LeukoPrint with karyotyping and fluorescence in situ hybridization (FISH) to evaluate its diagnostic performance and clinical utility in prognostic assessment. Compared with karyotyping, LeukoPrint demonstrated a significantly higher abnormality detection rate (75.2% vs 11.2%) and identified CNAs in 73.3% of karyotyping-negative cases. Concordance with FISH for key prognostic CNAs (a

SUBMITTER: Fang B 

PROVIDER: S-EPMC12925106 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature