骨髓增生异常综合征分子生物学预后标志研究进展

Molecular Markers of Prognosis in Myelodysplastic Syndromes

骨髓增生异常综合征(myelodysplastic syndrome MDS)是一组有着广泛临床特点和疾病转归的克隆性造血干细胞疾病。疾病危险度的评估对准确预测患者预后起着重要作用。1997年国际预后评分系统(International Prognostic Scoring System,IPSS)制定使其成为评估MDS危险度的标准工具,后续的模型在其基础上得以补充改进。最近,多个研究团队使用二代测序技术在多数MDS病人中发现了基因突变,研究证明它们有独立的预后意义,能补充完善MDS的预后模型。然而,突变信息分析复杂,目前应用到临床还有困难。尽管有诸多限制,二代测序能更准确的评估MDS病人预后,提高对MDS病人的诊疗水平,未来在临床上有更广泛的应用。本文就MDS目前的预后模型、分子生物学事件作为学术的预后标志及其优缺点进行综述。

Myelodysplastic syndromes(MDS) are a group of clonal hematopoietic disorders,which have a wide range of clinical manifestations and eventual outcomes.It is useful to predict its risk for patients prognosis.The International Prognostic Scoring System(IPSS) has been the standard tool used to stratify MDS patients since 1997.Other models have been created to improve upon the IPSS.With the application of next- generation sequencing(NGS),several research groups found mutated genes in the majority of MDS patients.Recently,more and more results prove that these mutations have independent prognostic significance.However,mutational information is complex and there are challenges for its clinical application.Despite these limitations,NGS can refine the prediction of prognosis for MDS patients and will improve the care of them.In this article the curent prognostic markers of MDS,the mdecular biological events as new prognostic markers and their advaintages and drawbacks are summarized.