| Literature DB >> 33436579 |
Eileen M Boyle1,2,3, Shayu Deshpande1, Ruslana Tytarenko1, Cody Ashby1,4, Yan Wang1, Michael A Bauer1,4, Sarah K Johnson1, Christopher P Wardell1,4, Sharmilan Thanendrarajan1, Maurizio Zangari1, Thierry Facon5, Charles Dumontet2, Bart Barlogie6, Arnaldo Arbini3, Even H Rustad3, Francesco Maura7, Ola Landgren7, Fenghuang Zhan1, Frits van Rhee1, Carolina Schinke1, Faith E Davies3, Gareth J Morgan8, Brian A Walker9.
Abstract
Smoldering myeloma (SMM) is associated with a high-risk of progression to myeloma (MM). We report the results of a study of 82 patients with both targeted sequencing that included a capture of the immunoglobulin and MYC regions. By comparing these results to newly diagnosed myeloma (MM) we show fewer NRAS and FAM46C mutations together with fewer adverse translocations, del(1p), del(14q), del(16q), and del(17p) in SMM consistent with their role as drivers of the transition to MM. KRAS mutations are associated with a shorter time to progression (HR 3.5 (1.5-8.1), p = 0.001). In an analysis of change in clonal structure over time we studied 53 samples from nine patients at multiple time points. Branching evolutionary patterns, novel mutations, biallelic hits in crucial tumour suppressor genes, and segmental copy number changes are key mechanisms underlying the transition to MM, which can precede progression and be used to guide early intervention strategies.Entities:
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Year: 2021 PMID： 33436579 PMCID： PMC7804406 DOI： 10.1038/s41467-020-20524-2
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919