MDS、MDS/AML及AML基因突变的频谱分析

来源期刊：广州医药 | 1-6 发布时间：2021-11-29 收稿时间：2025/11/13 17:19:41 阅读量：24

作者：: 胡偏,

毛敏,

王燕,

潘歆,

农卫霞,

龙珍珠玛,

章大谦,

张红霞,

吴广胜,

关键词：: 骨髓增生异常综合征急性髓系白血病基因突变二代测序; Myelodysplastic syndrome De novo acute myeloid leukemia Gene mutation Next-generation sequencing

DOI：: 10.3969/j.issn.1000-8535.2018.04.001

收稿时间：: 2018-03-08
修订日期：
接收日期：
引用总数：: 0

目的探讨MDS、MDS/AML及原发AML基因突变频谱的异同点及其临床意义。方法选取98例MDS患者、32例MDS/AML患者及234例原发AML患者为研究对象,利用二代测序技术检测基因突变。结果 MDS组中突变率较高的基因突变为TET2(16.7%,16/96)、U2AF1(12.0%,6/50)、SF3B1(11.8%,9/76);MDS/AML组中突变率较高的基因突变为TP53(33.3%,2/6)、DNMT3A(30%,6/20)、IDH2(21.1%,4/19);原发AML组中突变率较高的基因突变为FLT3-ITD(18.0%,42/233)、NPM1(16.3%,38/233)、DNMT3A(14.9%,14/94)。DNMT3A(P=0.006)、IDH2(P=0.004)及NPM1(P=0.002)等基因突变在MDS与MDS/AML两组间的突变率有统计学差异;FLT3-ITD(P=0.001)、NPM1(P=0.002)、CEBPA(P=0.011)及IDH2(P=0.019)等基因突变在MDS与原发AML两组间的突变率有统计学差异;所有受检基因突变在MDS/AML与原发AML两组间的基因突变的突变率无统计学差异(P＞0.05)。结论 MDS、MDS/AML及原发AML基因突变的突变频谱具有相似性及异质性,从MDS到MDS/AML、原发AML基因突变的变化不仅影响疾病转归及预后而且可帮助鉴别MDS/AML和原发AML。

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