Myelodysplastic syndromes/neoplasms (MDS) represent a biologically and clinically diverse group of myeloid malignancies marked by cytopenias, morphological dysplasia, and an inherent risk of progression to acute myeloid leukemia. Over the past two decades, the field has made significant advances in characterizing the molecular landscape of MDS, leading to refined classification systems to reflect the underlying genetic and biological diversity. In 2025, the treatment of MDS is increasingly individualized, guided by integrated clinical, cytogenetic, and molecular risk stratification tools. For lower-risk MDS, the treatment paradigm has evolved beyond erythropoiesis-stimulating agents (ESAs) with the introduction of novel effective agents such as luspatercept and imetelstat, as well as shortened schedules of hypomethylating agents (HMAs). For higher-risk disease, monotherapy with HMAs continue to be the standard of care as combination therapies of HMAs with novel agents have, to date, failed to redefine treatment paradigms. The recognition of precursor states like clonal hematopoiesis of indeterminate potential (CHIP) and the increasing use of molecular monitoring will hopefully enable earlier intervention/prevention strategies. This review provides a comprehensive overview of the current treatment approach for MDS, highlighting new classifications, prognostic tools, evolving therapeutic options, and ongoing challenges. We discuss evidence-based recommendations, treatment sequencing, and emerging clinical trials, with a focus on translating biological insights into improved outcomes for patients with MDS.
骨髓增生异常综合征/肿瘤（MDS）是一组生物学和临床异质性显著的髓系恶性肿瘤，以血细胞减少、形态学异常以及固有的向急性髓系白血病进展风险为特征。过去二十年间，该领域在解析MDS分子图谱方面取得重大进展，推动了分类体系的精细化以反映其潜在的遗传与生物学多样性。至2025年，MDS治疗日益个体化，其决策主要依据整合临床、细胞遗传学及分子风险分层工具。针对低危MDS，治疗模式已超越促红细胞生成素类药物（ESAs），新型有效药物如罗特西普和伊美司他相继问世，同时去甲基化药物（HMAs）的短疗程方案得到应用。对于高危患者，HMAs单药治疗仍是标准方案，目前HMAs联合新型药物的疗法尚未能重塑治疗范式。随着对克隆性造血潜能未定（CHIP）等前驱状态的认知深化，以及分子监测技术的广泛应用，早期干预与预防策略有望实现。本综述系统阐述当前MDS治疗策略，重点解析新分类体系、预后工具、演进中的治疗方案及现存挑战。通过讨论循证医学建议、治疗序贯策略及新兴临床试验，我们致力于将生物学认知转化为改善MDS患者预后的临床实践。
Advances and Challenges in the Management of Myelodysplastic Syndromes
肿瘤(癌症)患者之家