Myelodysplastic syndromes (MDSs), either primary or secondary, are a heterogeneous group of clonal hematological neoplasms characterized by bone marrow dyshematopoiesis, peripheral blood cytopenia, and the potential risk of acute myeloid leukemia (AML) transformation. The clinical heterogeneity in MDS is a reflection of the underlying multitude of genetic defects playing a role in the pathogenesis. Recent advances in the clinicopathological, immunophenotypic, and molecular landscape in understanding the pathophysiology of MDS lead to evolving and refined classification systems with newer entities. Evolving MDS therapies will target the disease’s core mechanisms, allowing for personalized treatment based on individual patient’s genes and leading to better outcomes. This review provides an overview of MDS pathogenesis to enhance comprehension of its various subgroups. Additionally, we examine the updated classification systems of the World Health Organization (WHO) and the International Consensus Classification (ICC) pertaining to MDS, along with relevant therapeutic approaches.
骨髓增生异常综合征（MDS），无论是原发性还是继发性，均为一组异质性克隆性血液系统肿瘤，其特征为骨髓造血功能异常、外周血细胞减少以及向急性髓系白血病（AML）转化的潜在风险。MDS的临床异质性反映了其发病机制中多种遗传缺陷的共同作用。近年来，通过对MDS病理生理学的临床病理学、免疫表型和分子学特征研究的深入，其分类体系不断演进与细化，并涌现出新的疾病亚型。不断发展的MDS治疗策略将针对疾病的核心机制，实现基于患者个体基因特征的个性化治疗，从而改善预后。本综述概述了MDS的发病机制，以增进对其不同亚群的理解。此外，我们还探讨了世界卫生组织（WHO）和国际共识分类（ICC）关于MDS的最新分类体系及相关治疗方法。
Unveiling Myelodysplastic Syndromes: Exploring Pathogenic Mechanisms and Therapeutic Advances
肿瘤(癌症)患者之家