骨髓增生异常综合征基因突变模式及靶向治疗研究进展

Progress of gene mutation patterns and targeted therapy in myelodysplastic syndromes

骨髓增生异常综合征(MDS)是最常见的髓系肿瘤,其存在的克隆造血导致骨髓衰竭。对MDS基因突变谱的了解有助于理解MDS的生物学意义,并可用于疾病的早期诊断、精确的危度分层、解释发病机制和改进治疗方案。随着MDS病理学特征逐渐得到阐明,个体化高效治疗方案渐趋完善,靶向治疗将可能改善患者预后。文章介绍第60届美国血液学会(ASH)年会有关MDS基因突变及靶向治疗进展的内容。

The myelodysplastic syndromes (MDS) are collectively the most common myeloid neoplasms,and the clonal hematopoiesis presented in MDS results in bone marrow failure.An understanding of the MDS gene mutation profile can help to understand the biological significance of MDS and can be used for early diagnosis of disease,precise risk stratification,interpretation of pathogenesis,and improvement of treatment options.As the pathological features of MDS are gradually elucidated,individualized and effective treatment options are improved,and the targeted drug therapy may improve the prognosis of MDS patients.This article introduces the progress of MDS gene mutations and targeted therapy in the 60th American Society of Hematology (ASH) Annual Meeting.