Comont T, Delavigne K, Cougoul P, Bertoli S, Delabesse E, Fenaux P, Beyne-Rauzy O
Service de médecine interne et immunopathologie, institut universitaire du Cancer de Toulouse Oncopôle, centre hospitalier universitaire de Toulouse, 31100 Toulouse, France; UFR Purpan, université Toulouse III Paul Sabatier, 31400 Toulouse, France; UMR1037-Inserm, ERL5294 CNRS, centre de recherche en cancérologie de Toulouse, 31100 Toulouse, France.
Service de médecine interne et immunopathologie, institut universitaire du Cancer de Toulouse Oncopôle, centre hospitalier universitaire de Toulouse, 31100 Toulouse, France.
Rev Med Interne. 2019 Sep;40(9):581-589. doi: 10.1016/j.revmed.2019.04.001. Epub 2019 May 1.
Myelodysplastic syndromes are a heterogeneous group of clonal myeloid disorders characterized by peripheral cytopenias and an increased risk of progression to acute myeloid leukemia. Inflammatory, auto-immune or syndromic symptoms can make the diagnosis difficult. Diagnosis is currently based on bone marrow cytology but cytogenetics and molecular features are currently overpassing their initial prognostic function (allowing early diagnosis and prediction of therapeutic response). The prognostic classification is based on the Revised International Prognostic Scoring System, which also provides guidance for therapeutic management. The treatment of low-risk myelodysplastic syndromes is based on the correction of cytopenias (erythropoiesis stimulating agents, transfusions, lenalidomide, etc.), whereas in high-risk group, the goal is the control of the leukemic clone (hypomethylating agents, allograft of hematopoietic stem cell transplantation). Other molecules are used to manage complications of cytopenias or transfusion (anti-infectious prophylaxis and treatments, martial chelation). New molecules are being studied with some interesting results (luspatercept, venetoclax). This article aims to provide an update on the knowledge that an internist should know for the practical management of myelodysplastic syndromes in 2019.
骨髓增生异常综合征是一组异质性的克隆性髓系疾病，其特征为外周血细胞减少以及进展为急性髓系白血病的风险增加。炎症性、自身免疫性或综合征性症状会使诊断变得困难。目前诊断基于骨髓细胞学检查，但细胞遗传学和分子特征目前正超越其最初的预后功能（能够实现早期诊断和治疗反应预测）。预后分类基于修订后的国际预后评分系统，该系统也为治疗管理提供指导。低危骨髓增生异常综合征的治疗基于血细胞减少的纠正（促红细胞生成素、输血、来那度胺等），而在高危组，目标是控制白血病克隆（去甲基化药物、造血干细胞移植同种异体移植）。其他分子用于处理血细胞减少或输血的并发症（抗感染预防和治疗、铁螯合）。正在研究一些新分子并取得了一些有趣的结果（罗特西普、维奈克拉）。本文旨在提供2019年内科医生在骨髓增生异常综合征实际管理中应了解的知识更新。
