Lionetti Marta, Neri Antonino
a Department of Oncology and Hemato-oncology , Università degli Studi di Milano , Milano , Italy.
b Hematology , Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico , Milano , Italy.
Expert Rev Mol Diagn. 2017 Jul;17(7):653-663. doi: 10.1080/14737159.2017.1332996. Epub 2017 May 26.
Multiple myeloma (MM) is a bone marrow plasma cell malignancy characterized by wide clinical presentation and heterogeneous genetic background. Despite the recent advances in patient outcome, new markers are needed for improving risk prediction and choice of a more appropriate therapy. In this perspective, the genetic makeup of MM cells is being better characterized by means of next-generation sequencing (NGS) technologies. Areas covered: The authors discuss how the application of NGS has improved our knowledge of MM biology by discovering its mutational landscape, identifying the operating mutational processes, and revealing the clonal composition of tumors and the dynamics of its evolution; and how this can have important clinical implications in terms of prognostication, therapeutic choices, and response assessment. Finally, the authors provide a quick outlook of future applications of these technologies that could help in the management of the disease in the next years. Expert commentary: The clinical exploitation of NGS-based characterization of MM patients has as its ultimate goal the precision medicine. Considerable obstacles to its implementation in myeloma management exist; therefore, the concerted effort of all involved stakeholders is mandatory to ensure that it will become a reality in routine clinical practice in the next future.
多发性骨髓瘤(MM)是一种骨髓浆细胞恶性肿瘤,临床表现广泛,基因背景异质性强。尽管近期患者预后有所改善,但仍需要新的标志物来改进风险预测并选择更合适的治疗方法。从这个角度来看,通过下一代测序(NGS)技术,MM细胞的基因组成正得到更好的表征。涵盖领域:作者讨论了NGS的应用如何通过发现MM的突变图谱、识别起作用的突变过程、揭示肿瘤的克隆组成及其进化动态,从而提高我们对MM生物学的认识;以及这在预后、治疗选择和反应评估方面如何具有重要的临床意义。最后,作者简要展望了这些技术在未来几年可能有助于疾病管理的应用前景。专家评论:基于NGS对MM患者进行表征的临床应用最终目标是实现精准医学。在骨髓瘤管理中实施该技术存在相当大的障碍;因此,所有相关利益攸关方必须共同努力,以确保其在未来常规临床实践中成为现实。