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J Clin Oncol. 2017 Mar 20;35(9):963-967. doi: 10.1200/JCO.2016.70.6705. Epub 2017 Feb 13.

Genomics of Multiple Myeloma.

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Sebastien Robiou du Pont, Charlotte Fontan, Michel Attal, Jill Corre, and Hervé Avet-Loiseau, L'Institut Universitaire du Cancer Oncopole, Toulouse; Alice Cleynen, Centre National de la Recherche Scientifique, and Montpellier University, Montpellier, France; and Nikhil Munshi, Dana-Farber Cancer Institute, Boston, MA.


Multiple myeloma (MM) is characterized by wide variability in the chromosomal/genetic changes present in tumor plasma cells. Genetically, MM can be divided into two groups according to ploidy and hyperdiploidy versus nonhyperdiploidy. Several studies in gene expression profiling attempted to identify subentities in MM without convincing results. These studies mostly confirmed the cytogenetic data and subclassified patients according to 14q32 translocations and ploidy. More-recent data that are based on whole-exome sequencing have confirmed this heterogeneity and show many gene mutations but without a unifying mutation. These newer studies have shown the frequent alteration of the mitogen-activated protein kinase pathway. The most interesting data have demonstrated subclonality in all patients with MM, including subclonal mutations of supposed driver genes KRAS, NRAS, and BRAF.

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