中文摘要：

目的 研究伴有NPM1基因突变的急性髓系白血病（AML）患者的临床特点.方法 采用实时定量PCR方法对206例初诊AML患者进行NPM1基因突变（包括A、B、D三种最常见类型）检测.结果 NPM1突变阳性患者占所有AML患者的15.5%,占正常核型AML患者的32.5%.NPM1基因突变定量中位值为23.2%（2.3%～140.8%）.32例NPM1突变阳性和174例NPM1突变阴性患者相比,初诊时中位年龄（46岁和35岁,P＜0.01）、WBC（27×109/L和8×109/L,P＜0.01）、BPC（82×109/L和36×109/L,P＜0.01）、AML-M5比例（31.2%和5.8%,P＜0.01）、染色体正常核型比例（92.6%和40.8%,P＜0.01）、伴有FLT3-ITD突变阳性患者的比例（25.0%和7.5%,P＜0.01）、免疫表型CD34阳性患者比例（23.3%和69.5%,P＜0.01）、伴有特异性融合基因患者的比例（0和47.1%,P＜0.01）等指标差异均有统计学意义.而在性别比例、骨髓原始细胞比例、完全缓解率、总体生存率方面差异无统计学意义（P＞0.05）.NPM1突变阳性伴FLT3-ITD阴性患者比NPM1突变阳性伴FLT3-ITD阳性患者无复发生存率有提高趋势.结论 对初诊时高白细胞计数、血小板计数不低、CD34阴性表型和正常核型AML患者检测NPM1和FLT3-ITD突变,有利于分子分型和指导治疗.

英文摘要：

Objective To investigate the clinical characteristics of newly diagnosed acute myeloid leukemia （AML） with NPM1 mutation. Methods NPM1 mutation（including A,B,D mutation type） was detected in 206 patients with newly diagnosed AML by real-time quantitative RT-PCR. Results The incidence of NPM1 mutation was 15.5% in total AML patients and 32.5% in normal karyotypes AML patients.The characteristics of 174 NPM1 wild type patients v. s. that of 32 NPM1 mutation patients was as follow, median age（46 vs 35 years old, P〈0.01 ）, WBC counts （27 × 109/L vs 8 × 109/L, P 〈0.01 ）, BPC（82 ×109/L vs 36 × 109/L, P 〈0.01 ）, proportion of AML-M5 （31.2% vs 5.8%, P =0.01 ）, incidence of normal karyotypes（92.6% vs 40.8%, P 〈 0.01 ）, incidence of FLT3-ITD-positive （ 25.0% vs 7.5%, P 〈 0.01 ）,C D34-positvie （23.3% vs 69.5 %, P 〈 0.01 ）, cases with fusion gene （ 0 vs 47.1%, P 〈 0. 0 1 ）. No statistic difference was found in sex, percentage of blasts in bone marrow, complete remission rate, overall survival between the two groups. Relapse-free survival in AML patients with NPM1-mutation and FLT3-ITD-negative tended to be higher than in those with NPM1-mutation and FLT3-ITD-positive. Conclusion It is necessary to detect NPM1 mutation and FLT3-ITD in newly diagnosed AML patients, especially in patients with high WBC and BPC, CD34 -negative, normal karyotype, which might help to molecular classification and treatment.