Publication Date:
2020-11-05
Description:
Background: Primary plasma cell leukemia (pPCL) is a rare and aggressive form of multiple myeloma (MM) with an extremely poor prognosis and distinct biological and clinical features. Because of its low incidence and its heterogeneity, biological knowledge about pPCL is lacking especially molecular process responsible for its aggressiveness. Here, we took advantage of a large series of pPCL to describe the genomic and transcriptomic landscape of pPCL, to identify potential driver mutations and pathways, and to determine their clinical impacts. Methods: To address these issues, we performed a targeted DNA sequencing and a RNA sequencing of sorted bone marrow plasma cells collected at the time of diagnosis from 96 patients with pPCL between 2014 and 2020. We compared their genomic profiles with those of 907 MM at diagnosis previously obtained in our laboratory and their transcriptomic profiles with those of 300 MM at diagnosis obtained from the IFM2009/DFCI trial (NCT01191060). Copy number aberrations (CNA), single nucleotide variants (SNV), translocations, mutations, gene expression (GE) and gene set enrichment were analyzed and correlated with clinical information (overall survival and progression-free survival). Results: Genome analysis highlighted a specific genomic profile of pPCL. Indeed, hyperdiploid karyotypes were less frequent in pPCL compared with MM (20% vs 57%, p
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine
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