Objective To explore the gene mutation of FLT3 and NPM1 in patients with acute myeloid leuKemia and the significance in prognosis. Methods The clinical data of 135 patients with acute myeloid leuKemia during January 2010 to December 2012 in this hospital (AML)were retrospectively analyzed in order to detect the mutation of FLT3 and NPM1 genes after treatment for 2 courses,and followed - up for 8 to 10 months in order to evaluate their prognosis. Results Among them,positive FLT3 - ITD was seen in 41 cases(30. 4% ),positive NPM1 in 62 cases(45. 9% ),and both positive NPM1 and FLT3 - ITD in 5 cases. In comparison with patients with negative mutation of FLT3 - ITD, the rates of complete remission(CR)and overall survival(OS)in patients with positive mutation of FLT3 - ITD were significantly lower,and their rate of relapse was significantly higher( P < 0. 05),and their median time for relapse - free survival(RFS)was shortened,but the difference be-tween these 2 groups was not statistically significant. In comparison with NPM1 mutation - negative group,the rates of CR and OS in patients with individual NPM1 positive group were significantly higher and recurrence rate was significantly lower( P < 0. 05),with extension of RFS median time,but the difference between these 2 groups was not statistically significant. Conclusion The gene mutation of FLT3 and NPM1 in patients with acute myeloid leuKemia is very common,and it has important significance in prognosis of these patients.%目的：探讨急性髓系白血病（AML）患者 Fms 样酪氨酸激酶-3基因（FLT3）和核仁酸蛋白基因（NPM1）基因突变情况及与预后的关系。方法回顾性分析2010年1月至2013年6月间收治的135例 AML 患者的资料，检测其 FLT3- ITD 和 NPM1基因，并进行标准方案诱导缓解及缓解后巩固强化化疗。随访6~34个月，观察预后情况，并进行统计学分析。结果 FLT3- ITD 阳性患者41例（30.4%）；NPM1阳性62例（45.9%）；NPM1和 FLT3- ITD 双阳性5例。与 FLT3- ITD 突变阴性患者相比较，单独 FLT3- ITD 突变阳性组完全缓解（CR）率和总体生存（OS）率明显降低，复发率明显升高（ P <0.05），无复发生存（RFS）中位时间缩短，但组间差异无统计学意义。与 NPM1突变阴性组相比较，单独 NPM1阳性组的 CR 率和 OS 率显著升高，复发率显著降低（ P <0.05），RFS 中位时间延长，但两组间差异无统计学意义。结论 FLT3- ITD 和 NPM1基因突变在急性髓系白血病患者中很常见，FLT3- ITD 突变阳性预后较差，而NPM1突变阳性预后良好。通过对 AML 患者 FLT3- ITD 及 NPM1突变，可以对预后进行判断，并对治疗具有指导作用。
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