Whole Exome Sequencing Confirmed Progression of Smoldering Multiple Myeloma to Multiple Myeloma
- Description
Smoldering multiple myeloma (SMM) is an asymptomatic plasma cell disorder. It is associated with a high-risk of progression to multiple myeloma (MM). For this study, they performed targeted sequencing on 82 patients from the University of Arkansas for Medical Science. The results showed fewer NRAS and FAM46C mutations with SMM, which is consistent with their role as drivers of the transition to MM. The investigators also analyzed the change in clonal structure over time by examining 53 samples from nine patients collected at multiple time points.
Whole exome sequencing and targeted panel data have been shared in the European Genome-Phenome Archive (EGA). The publication also contains supplementary data, which includes several tables that contain: incidence of copy number changes in SMM and MM based on copy number estimates from the targeted panel, summary of sample sequencing metrics, a list of genes on the targeted panel, metrics of sequential samples, ddPCR primer and probe sequences, and a list of loci included in the plot comparing SMM and MM copy number changes.
- Geographic Coverage
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Arkansas
Access
- Restrictions
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Free to AllAuthor Approval Required
- Instructions
- Targeted panel and whole exome sequencing data have been deposited to the European Genome-Phenome Archive (EGA). These data are available under restricted access and access can be obtained by contacting Gareth Morgan through the EGA data repository. Other data are available within the article in the Supplementary Materials.
- Grant Support
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Multiple Myeloma Research Foundation/Multiple Myeloma Research FoundationPerelman Family Foundation/Perelman Family Foundation6020- 20/Leukemia & Lymphoma SocietyFederation Francaise de Recherche sur le Myelome et les Gammapathies/Fondation de France