急性髓系白血病患者TET2基因突变发生率及其临床意义

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目的 探讨急性髓系白血病(AML)患者TET2基因突变的发生率,并探讨其临床意义.方法 采用基因组DNA-PCR方法扩增TET2基因3~11号外显子,基因测序分析TET2基因突变,随访患者判定其疗效及预后.结果 96例AML患者中13例检测到TET2基因突变,突变率为13.54%(95%CI 6.70%~20.38%).突变组患者中位年龄54岁,未突变组患者中位年龄41岁,两者差异有统计学意义(P=0.010).突变组患者初诊外周血HGB高于未突变组,分别为84(70~108)g/L和70(55~87)g/L,差异有统计学意义(P=0.032);两者在性别、分型、初诊外周血白细胞计数、血小板计数、外周血原始细胞、骨髓原始细胞比例及染色体核型等方面差异无统计学意义(P值均>0.05).TET2基因突变与NPM1基因突变有一定的相关性,但与C-KIT、FLT3及JAK2 V617F突变并无明显的相关性.在非M3型患者中,突变组的第1次化疗完全缓解率和2年总生存率均低于未突变组,差异有统计学意义(P
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