骨髓增生异常综合征 (MDS) 是起源于造血干细胞的恶性疾病。其总发病率为每年 10 万人中有 4 例，并且通常在评估细胞减少症时被诊断。中位生存时间为三年。骨髓增生异常综合征的病程各异，四分之一的患者会发展成急性白血病。该综述基于从 2013 年至 2022 年、包括相关指南在内的 PubMed 数据库检索的文献。选择这段时间的目的是反映自 2013 年发表最新欧洲血液学会指南以来的发展。诊断的金标准是血液和骨髓的细胞形态学，辅以带状细胞遗传学、组织形态学和体细胞突变分析。世界卫生组织提出的新分类融合了分子和细胞遗传学研究。考虑到体细胞突变，现在可以使用分子国际预后评分系统 (IPSS-M) 作为预后评估的辅助工具。通过使用标准化仪器对生活质量进行评估，在许多方面都有帮助。对于低风险患者，使用红细胞输注和铁螯合疗法进行支持性治疗。对于红细胞生成素-a水平低于 200ng/mL 的患者，可以给予红细胞生成素-a，对于存在5q缺失的患者，可以给予来那度胺，对于具有SF3B1基因突变的患者，可以给予卢帕特塞普治疗。高风险患者应尽早进行鉴别，以进行治疗有治愈可能的异基因造血干细胞移植。对于不适合造血干细胞移植的患者，5-氮杂胞苷可改善其预后。一旦确诊，新的预后工具如IPSS-M能够根据患者疾病的生物学方面以及他或她的年龄和合并症进行风险适应性治疗。

Myelodysplastic syndromes (MDS) are malignant diseases arising from hematopoietic stem cells. Their overall incidence is 4 cases per 100 000 persons per year, and they are usually diagnosed when evaluating cytopenia. The median survival time is three years. Myelodysplastic syndromes take a variable course; one-quarter of patients go on to develop acute leukemia.This review is based on publications retrieved by a selective search of the literature from 2013 to 2022, including relevant guidelines, in the PubMed database. The time period was chosen to reflect developments since the publication of the latest EHA guidelines in 2013.The gold standard of diagnosis is cytomorphology of the blood and bone marrow, supplemented by banding cytogenetics, histomorphology, and somatic mutation analyses. The new classification proposed by the WHO incorporates the molecular and cytogenetic findings. The Molecular International Prognostic Scoring System (IPSS-M), which takes somatic mutations into account, is now available as an aid to prognostication. Quality of life evaluation with standardized instruments is helpful in many ways. Low-risk patients are treated supportively with erythrocyte transfusions and iron chelation therapy. Erythropoietin-a can be given to patients whose erythropoietin level is less than 200ng/mL, lenalidomide to those with a 5q deletion, and luspatercept to those with an SF3B1 mutation. High-risk patients should be evaluated as early as possible for allogeneic hematopoietic stem cell transplantation with curative intent. 5-azacytidine improves outcomes in patients for whom stem cell transplantation is not suitable.Once a precise diagnosis has been established, new prognostic instruments such as the IPSS-M enable risk-adapted treatment based on the biological aspects of the patient's disease as well as his or her age and comorbidities.