基因特征研究在骨髓增生异常综合征诊疗中的进展

Current understanding of gene mutation characteristics researching in the diagnosis and treatment of myelodysplastic syndrome

过去十多年来二代基因测序技术(NGS)在骨髓增生异常综合征(MDS)中大规模的基因组测序筛选,识别了MDS中众多重现性驱动突变。对MDS基因特征的研究推动了MDS的分子发病机制、诊治和预后的认识。文章就相关文献及研究简要阐述近几年血液工作者的一些新发现和新认知的相关进展。

With the development of next generation gene sequencing(NGS)in myelodysplastic syndrome,more and more recurrent driver mutations have been proposed. The genetics of MDS are made to clarify their impacts on clinical phenotype and prognosis,as well as their role in the pathogenesis of MDS. The purpose of this review is to overview the recent understanding of gene mutation characteristics in the diagnosis and treatment of MDS.