中文摘要：

目的比较伴FLT3基因突变（FLT3-ITD＋）与不伴FLT3基因突变（FLT3-ITD-）的急性髓细胞白血病（AML）患者的实验室特征、疗效以及预后。方法 2010年10月-2012年10月收治的初诊AML患者93例,年龄10~66岁,包括21例FLT3-ITD＋AML（22.6%）和72例FLT3-ITD-AML（77.4%,对照组）列入分析。比较两组患者的临床表现,HOX11、EVI、ETO、MLL、NPM1基因表达情况,细胞学抗原（CD34/CD38、淋巴抗原、CD7和CD4）表达情况,细胞遗传学表现（正常核型、复杂核型）,2年无事件生存（EFS）和2年总生存（OS）情况。结果 FLT3-ITD＋AML初诊时合并外周血白细胞增高（〉100×109/L）及出血者多于FLT3-ITD-组（P〈0.01,P=0.004）,但两组在年龄、免疫表型及染色体异常等方面无明显差异。FLT3-ITD＋AML完全缓解（CR）率28.57%,显著低于FLT3-ITD-AML的55.56%（P=0.03）。FLT3-ITD＋AML 2年无事件生存率为29.2%,低于FLT3-ITD-AML组（37.7%,P=0.04）。FLT3-ITD＋AML联合表达NPM1者占33.33%,明显高于FLT3-ITD-AML组（1.39%,P=0.001）。FLT3-ITD＋AML中表达NPM1的患者均未达完全缓解。结论 FLT3-ITD＋AML易合并白细胞增高,完全缓解率低,无事件存活率低,预后差。

英文摘要：

Objective To compare the clinical and laboratory characteristics, therapeutic efficacy and prognosis of acute myelogenous leukemia （AML） with or without FLT3-ITD gene mutation. Methods The clinical data of 93 AML patients, aged from 10 to 66 years, were retrospectively analyzed. Among them, 21 patients were FLT3-ITD gene （FLT3-ITD＋ AML group） positive, and 72 patients were negative for FLT3-ITD gene （FLT3-ITD- AML group）. The patients＇ chromosomes were examined and mutation of FLT3-ITD and NPM1 gene and the expressions of HOX11, ETO, EVI and NPM1 gene were analyzed, along with the 2-year event-free survival and 2-year overall survival were learned. Results At primary diagnosis, the proportion of patients with WBC〉100 × 109/L, and bleeding rate was significantly higher in FLT3-ITD＋ AML group than that in FLT3-ITD- AML group （P=0.04; P=0.01）, but no statistical difference was found in age, immunophenotype and chromosomal abnormality （P〉0.05）. The complete remission （CR） rate was 28.57% in FLT3-ITD＋ AML group, and it was obviously lower than that in FLT3-ITD- AML group （55.56%, P=0.013）. The 2-year event-free survival was 29.2% in FLT3-ITD＋ AML group and it was significantly lower than that in FLT3-ITD- AML group （37.7%; P=0.04）. Meanwhile, 33.3% of the patients in FLT3-ITD- AML group were also positive for NPM1 gene expression, and all of them did not get complete remission. However, only 1.39% of the patients expressed NPM1 gene in FLT3-ITD- AML group, but 50% of them got complete remission （P=0.022）. Conclusion Patients with FLT3-ITD~AML were easily associated with high WBC counts, bleeding, lower CR rate, poor event-free survival, and poor prognosis.