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With the development of NGS (Next Generation Sequencing) at both the DNA and RNA level, better characterization of genetic abnormalities in MM is now possible. In a review written by Sébastien Robiou du Pont and colleagues from L’Institut Universitaire du Cancer, Oncopole, Toulouse, France, as well as collaborators at the Centre National de la Recherche Scientifique, Montpellier University, France, and The Dana-Farber Cancer Institute, Boston, USA, the genomics of Multiple Myeloma (MM) is discussed. The review was published in Journal of Clinical Oncology in March 2017.
With improvements in genetic profiling methodologies and an increased number of patients enrolled in clinical trials, the search for a link between genetics and prognosis in MM should become easier. This will be increasingly important to help steer more tailored treatment regimens in the future.
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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