临床与病理杂志2017，Vol.37Issue(11)：2332-2338,7.DOI:10.3978/j.issn.2095-6959.2017.11.008
骨髓增生异常综合征患者常见突变基因的突变组分析
Mutaome analysis of common mutated genes in patients with myelodysplastic syndromes
摘要
Abstract
Objective:To investigate the mutaome profile of the 15 common mutated genes and related clinical significance in patients with myelodysplastic syndromes (MDS).Methods:Ninety-seven patients primarily diagnosed as MDS and MDS progressed to acute myeloid leukemia (MDS/AML) were enrolled.Mutated genes were analyzed in bone marrow samples by Sanger sequencing,including the RNA splicing factor genes U2AF1,SF3B1 and SRSF2,epigenetic regulation genes ASXL1,DNMT3A,IDH1,IDH2 and TET2,signal transduction pathway genes JAK2,NRAS,KRAS,PTPN11,as well as other genes TP53,RUNX1 and SETBP1.Results:Mutations were detected in 67.98％ of the patients,23.71％ carried mutations of multiple genes,and a total of 18 combinations of different mutations were detected.U2AF1 was the most commonly mutated gene,followed by ASXL1 and TP53.ASXL1 and RUNX1 mutations are often concomitant with other gene mutations,while SF3B1 mutations usually occurred alone.RNA splicing factor genes were mutually exclusive,and they are more likely accompanied by mutation of epigenetic regulation genes.The genes mutation frequency in primarily diagnosed MDS/AML patients was significantly higher than that in MDS patients (85.71％ vs 60.52％,P=0.038).The age in mutation positive group was higher than that of mutation negative group,the frequency of gene mutation in adult group was higher than that of children and adolescent group,the differences were all statistically significant (P=0.003).Conclusion:There were certain rules in the mutaome profile of MDS and MDS/AML patients,which was related to gene function and age of patients.关键词
骨髓增生异常综合征/基因突变/突变组Key words
myelodysplastic syndrome/gene mutation/mutaome引用本文复制引用
刘铭,张羽,张薇,王明宇,段雪,刘红星,王伟,张阳,王芳,陈雪,田文君,聂代静,滕文,房建成,曹泮翔..骨髓增生异常综合征患者常见突变基因的突变组分析[J].临床与病理杂志,2017,37(11):2332-2338,7.基金项目
山东省自然科学基金(ZR2016HP02) （ZR2016HP02）
This work was supported by the Natural Science Foundation of Shandong Province,China (ZR2016HP02). （ZR2016HP02）
