骨髓增生异常综合征相关基因突变的研究进展

Research progress of gene mutations associated with myelodysplastic syndromes

骨髓增生异常综合征（MDS）是一组骨髓造血干细胞恶性克隆性疾病。随着分子生物学技术在科学研究和临床实践中的广泛应用，已有研究表明基因突变是 MDS 发生及进展的重要原因，MDS 临床异质性大小与基因突变的多样性密切相关，基因研究在 MDS 诊断、分型和预后判断中将发挥越来越重要的作用。文章对近年来 MDS 常见基因突变的研究进展进行综述。

Myelodysplastic syndromes （MDS） is a group of malignant clonal hematopoietic stem cell disorders. With the application of molecular biology techniques in a wide range of scientific research and clinical practice, studies have shown that gene mutation is one of the key factors in the occurrence and progression of MDS. Great clinical heterogeneity of MDS is associated with diversity of genes mutation, and genes research will play an increasingly important role in the diagnosis, classification and prognosis of MDS. In this review, the recent advances on these common genes will be summarized.