中文摘要：

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％CI6．70％～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JAK2V617F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〈0．05）。结论TET2基因突变更易存在于年龄偏大的AML患者中，在非M3型患者中TET2基因突变与患者的临床特点、疗效有一定相关性，提示是预后不良的分子学标志。

英文摘要：

Objective To evaluate the prevalence of TET2 gene mutation in acute myeloid leukemia （AML） patients, and analyze their clinical characteristics and prognosis. Methods Polymerase chain reaction （PCR） and direct sequencing were used to sequence exon 3 to 11 of TET2 gene. Results Among 96 AML patients, TET2 gene inutation was detected in 13 （ 13.54% ） patients （95% CI 6.70% - 20.38% ）. The median age was 54 years in mutated group and 41 years in unmutated group （ P =0. 010）. Mutated and unmutated patients did not significantly differ in gender, white blood cells （ WBC ） count at diagnosis, platelet count, PB and BM blast percentage and chromosome karyotype, excepting for hemoglobin level 84 （70 - 108） g/L in mutated group versus 70（55 -87） g/L in unnmtated group （P =0. 032）. TET2 geue mutation had no significant correlation with C-KIT, FLT3, JAK2V617F nmtations, but did with NPM1 mutation. TET2 nmtated patients had lower CR1 rate and 2-year overall survival than unmutated in non-M3 patients （P 〈 0.05 ）. Conclusions TET2 gene mutation is more prevalent in older AML patients and has a certain correlation with clinical characteristics and outcome. It may be a molecular marker for poor prognosis in AML.