Department of Hematology, Oncology and Clinical Immunology, University Hospital of Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.
Dtsch Arztebl Int. 2023 Mar 24;120(12):203-210. doi: 10.3238/arztebl.m2023.0005.
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.
骨髓增生异常综合征（MDS）是一种起源于造血干细胞的恶性疾病。其总体发病率为每年每 10 万人中有 4 例，通常在评估血细胞减少症时诊断。中位生存时间为三年。骨髓增生异常综合征的病程多变；四分之一的患者会发展为急性白血病。
本综述基于 2013 年至 2022 年通过选择性文献搜索在 PubMed 数据库中检索到的文献，包括相关指南。选择这个时间段是为了反映自 2013 年发布最新 EHA 指南以来的最新发展。
诊断的金标准是血液和骨髓的细胞形态学，辅以带型细胞遗传学、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纳入了分子和细胞遗传学发现。现在有一个新的分子国际预后评分系统（IPSS-M），它考虑了体细胞突变，可以帮助预测预后。使用标准化工具进行生活质量评估有很多好处。低危患者接受支持性治疗，包括红细胞输注和铁螯合治疗。红细胞生成素-a 可用于红细胞生成素水平低于 200ng/mL 的患者，来那度胺用于 5q 缺失的患者，luspatercept 用于 SF3B1 突变的患者。高危患者应尽早评估是否适合进行根治性异基因造血干细胞移植。5-氮杂胞苷可改善不适合干细胞移植患者的预后。
一旦明确诊断，新的预后工具，如 IPSS-M，可以根据患者疾病的生物学特征以及年龄和合并症进行风险适应性治疗。
