Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.
Institution of Medicine Huddinge, Karolinska Institute, Stockholm, Sweden.
J Intern Med. 2019 Jul;286(1):41-62. doi: 10.1111/joim.12893. Epub 2019 Mar 19.
Next-generation sequencing (NGS) is rapidly changing the clinical care of patients with myelodysplastic syndrome (MDS). NGS can be used for various applications: (i) in the diagnostic process to discriminate between MDS and other diseases such as aplastic anaemia, myeloproliferative disorders and idiopathic cytopenias; (ii) for classification, for example, where the presence of SF3B1 mutation is one criterion for the ring sideroblast anaemia subgroups in the World Health Organization 2016 classification; (iii) for identification of patients suitable for targeted therapy (e.g. IDH1/2 inhibitors); (iv) for prognostication, for example, where specific mutations (e.g. TP53 and RUNX1) are associated with inferior prognosis, whereas others (e.g. SF3B1) are associated with superior prognosis; and (v) to monitor patients for progression or treatment failure. Most commonly, targeted sequencing for genes (normally 50-100 genes) reported to be recurrently mutated in myeloid disease is used. At present, NGS is rarely incorporated into clinical guidelines although an increasing number of studies have demonstrated the benefit of using NGS in the clinical management of MDS patients.
下一代测序（NGS）正在迅速改变骨髓增生异常综合征（MDS）患者的临床治疗方式。NGS 可用于各种应用：（i）在诊断过程中，用于区分 MDS 与再生障碍性贫血、骨髓增生性疾病和特发性血细胞减少症等其他疾病；（ii）用于分类，例如，SF3B1 突变的存在是 2016 年世界卫生组织分类中环形铁幼粒细胞贫血亚组的一个标准；（iii）用于识别适合靶向治疗的患者（例如 IDH1/2 抑制剂）；（iv）用于预后评估，例如，特定突变（例如 TP53 和 RUNX1）与预后不良相关，而其他突变（例如 SF3B1）与预后良好相关；（v）监测患者的进展或治疗失败情况。最常见的是，对报告在髓系疾病中经常发生突变的基因（通常为 50-100 个基因）进行靶向测序。目前，尽管越来越多的研究表明在 MDS 患者的临床管理中使用 NGS 的益处，但 NGS 很少被纳入临床指南。
