Corre Jill, Munshi Nikhil, Avet-Loiseau Hervé
Unit for Genomics in Myeloma, L'Institut Universitaire du Cancer de Toulouse-Oncopole, Centre Hospitalier Universitaire, Toulouse, France; Centre de Recherche en Cancérologie de Toulouse Institut National de la Santé et de la Recherche Médicale U1037, Toulouse, France;
Jerome Lipper Multiple Myeloma Center, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA; and Boston Veterans Administration Healthcare System, West Roxbury, MA.
Blood. 2015 Mar 19;125(12):1870-6. doi: 10.1182/blood-2014-10-567370. Epub 2015 Jan 27.
Our knowledge of myeloma genetics remained limited and lagged behind many other hematologic malignancies because of the inherent difficulties in generating metaphases within the malignant plasma cell clone. With the development of molecular techniques (microarrays and next-generation sequencing), our understanding has been highly improved in the past 5 years. These studies have not only confirmed the prevalence of wide heterogeneity in myeloma at the molecular level, but has also provided a much clearer picture of the disease pathogenesis and progression. Whether these data will enable improvements in the therapeutic approach is still a matter of debate. The next improvement will come from detailed analyses of these molecular features to try to move from a treatment fitted to every patient to individualized therapies, taking into account the complexity of the chromosomal changes, the mutation spectrum, and subclonality evolution.
由于在恶性浆细胞克隆中产生中期相存在内在困难，我们对骨髓瘤遗传学的了解仍然有限，落后于许多其他血液系统恶性肿瘤。随着分子技术（微阵列和下一代测序）的发展，在过去5年里我们的认识有了很大提高。这些研究不仅证实了骨髓瘤在分子水平上广泛异质性的普遍性，还对疾病的发病机制和进展有了更清晰的认识。这些数据是否能带来治疗方法的改进仍存在争议。下一个进展将来自对这些分子特征的详细分析，试图从适合每个患者的治疗转向个体化治疗，同时考虑到染色体变化的复杂性、突变谱和亚克隆性演变。
