MDS 相关分子标志物研究进展

Research progress in molecular biomarkers for MDS

骨髓增生异常综合征（MDS）是一组复杂的造血干细胞克隆性疾病，不同类型的 MDS具有不同的病态造血表现。由于缺乏特异性标志物，这给 MDS 的诊断、治疗和预后监测带来了很大困惑。近年来，随着分子检测技术的进展，MDS 中越来越多高频异常基因突变相继被发现。通过MDS 相关分子标志物在临床诊断、预后评价及治疗监测等方面的最新研究，进一步完善 MDS 诊断分型和预后评估体系，促进根据分子靶标为 MDS 患者制定个体化诊疗方案。（中华检验医学杂志，2016，39：536－539）

Myelodysplastic syndromes （ MDS ） represent a heterogeneous group of clonal hematopoietic disorders with diverse clinical course .Because of the heterogeneity and the lack of molecular markers to monitor disease progression, clinical management of MDS patients is challenging .Recently, with the development of molecular analysis techniques , an increasing number of MDS related molecular biomarkers have been reported.In this review, we will discuss the clinical applications of the newly reported molecular makers in terms of diagnosis , prognosis and treatment.These markers may improve the diagnosis and prognostic assessment systems of MDS , which may potentially be used to guide decision making in the individual therapy.