Kuo Frank C, Dong Fei
Center for Advanced Molecular Diagnostics, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA,
Curr Hematol Malig Rep. 2015 Jun;10(2):104-11. doi: 10.1007/s11899-015-0256-3.
Our ability to interrogate a broad array of genetic alterations in myeloid neoplasm has increased significantly with the advance in next-generation sequencing (NGS). In addition to morphologic examination, flow cytometry, and cytogenetics, NGS-based testing can add additional information to the diagnostic workup. More than a dozen myeloid-focused NGS-based panels are now available from commercial and academic laboratories. In this review, we examine the content of these panels in the context of our current understanding of driver alterations in myeloid neoplasms. With improved turnaround time, decreasing costs, and an expanding knowledge of the therapeutic and prognostic significance of the detected variants, NGS-based panel testing is likely to play a major role in the management of patients with myeloid neoplasm in the coming decade.
随着下一代测序（NGS）技术的进步，我们检测髓系肿瘤中广泛基因改变的能力有了显著提高。除形态学检查、流式细胞术和细胞遗传学外，基于NGS的检测可为诊断检查增添更多信息。目前，商业和学术实验室已有十多种针对髓系的基于NGS的检测组合。在本综述中，我们结合当前对髓系肿瘤驱动性改变的认识，审视这些检测组合的内容。随着周转时间的缩短、成本的降低以及对检测到的变异的治疗和预后意义的认识不断扩大，基于NGS的检测组合在未来十年的髓系肿瘤患者管理中可能会发挥重要作用。
