Optical Genome Mapping Reveals the Complex Genetic Landscape of Myeloma

Fluorescence in situ hybridization (FISH) on enriched CD138 plasma cells is the standard method for identification of clinically relevant genetic abnormalities multiple myeloma. However, FISH a targeted analysis that can be challenging due to complexity The aim this study was evaluate potential optical genome mapping (OGM) detect significant cytogenetic myeloma and provide larger pangenomic information. OGM analyses were performed CD138-purified 20 patients. successfully detected structural variants (SVs) (IGH MYC rearrangements), copy number (CNVs) (17p/TP53 deletion, 1p deletion 1q gain/amplification) aneuploidy (gains odd-numbered chromosomes, monosomy 13) classically expected with led 30% increase prognosis yield at our institution when compared FISH. Despite challenges interpretation calls CNV losses non-diploid genomes, has replace as care clinical settings efficiently change how we identify prognostic predictive markers therapies future. To knowledge, first highlighting feasibility utility