骨髓增生异常综合征精准诊断及治疗进展

Precise diagnosis and treatment progress of myelodysplastic syndrome

骨髓增生异常综合征(MDS)是克隆性造血干细胞肿瘤,其特征为持续性难以解释的血细胞减少、病态造血及高风险向骨髓衰竭性疾病和急性髓系白血病转化。高通量测序技术(NGS)推动了MDS分子遗传学基础的阐明,并促进了最新世界卫生组织(WHO)和国际共识分类(ICC)关于MDS分型及治疗的进展。文章将对MDS诊断分型、预后评估及治疗进展做一阐述。

Myelodysplastic syndrome(MDS)was a clonal hematopoietic stem cell tumor,which is characterized by persistent unexplained cytopenia,pathological hematopoiesis and high-risk transformation to bone marrow failure diseases and acute myeloid leukemia.High-throughput sequencing technique(NGS)has promoted the elucidation of molecular genetic basis of MDS,and promoted the progress of classification and treatment of MDS in the latest World Health Organization(WHO)and International Consensus Classification(ICC).This article will expound the diagnosis,classification,prognosis evaluation and treatment progress of MDS.