骨髓增生异常综合征的基因和遗传学特征

Genetic characteristics of myelodysplastic syndromes

骨髓增生异常综合征（MDS）是一种以造血功能受损和骨髓形态学异常为特征的临床异质性疾病。基因组学研究表明，MDS通常是由一系列影响核心基因组的多步骤的体细胞遗传过程驱动的。通过定义，重现性的MDS驱动突变引发克隆优势。此外，暴露因素如经过细胞毒性化疗或有生殖系遗传倾向可以影响疾病的发生和临床结果。文章结合第59届美国血液学会（ASH）年会报道，对有关MDS基因和遗传学特征进行介绍，以期提高MDS的诊断水平及对治疗相关性MDS发病机制和生殖系遗传倾向的认识。

Myelodysplastic syndromes （MDS） is a clinical heterogeneous disease characterized by impaired hematopoietic function and morphologic abnormalities of the bone marrow. Genomic studies show that MDS is usually driven by a series of multistep somatic cell genetic processes that affect the core genome. By definition, reproducible MDS drives mutations leading to cloning advantage. In addition, exposure factors, such as cytotoxic chemotherapy or genetic propensity of the reproductive system, could affect the pathogenesis and clinical outcomes of the disease. Combined with the reports in the 59th American Society of Hematology （ASH） Annual Meeting, the article introduces the genetic characteristics of MDS, in order to improve the diagnosis of MDS and the understanding of the pathogenesis of treatment-related MDS as well as the genetic tendency of MDS in the reproductive system.