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.
J Clin Oncol. 2017 Mar 20;35(9):963-967. doi: 10.1200/JCO.2016.70.6705. Epub 2017 Feb 13.
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.
多发性骨髓瘤（MM）的特征是肿瘤浆细胞中存在的染色体/遗传变化具有广泛的可变性。从遗传学角度来看，MM 可以根据ploidy（倍性）和 hyperdiploidy（超二倍体）与 nonhyperdiploidy（非超二倍体）分为两组。几项基因表达谱研究试图确定 MM 的亚实体，但没有令人信服的结果。这些研究大多证实了细胞遗传学数据，并根据 14q32 易位和ploidy（倍性）对患者进行了分类。基于全外显子测序的最新数据证实了这种异质性，并显示了许多基因突变，但没有一个统一的突变。这些新的研究表明，丝裂原活化蛋白激酶途径经常发生改变。最有趣的数据表明，所有 MM 患者都存在亚克隆性，包括假定的驱动基因 KRAS、NRAS 和 BRAF 的亚克隆突变。
