正常核型急性髓系白血病NPM1基因突变的临床分析

NPM1 mutation in acute myeloid leukemia with normal karyotype：a clinical analysis

目的：分析具有正常核型的急性髓系白血病（CN-AML）患者 NPM1基因突变情况及其临床意义。方法回顾性分析2008年1月至2015年6月年同济医院血液内科收治的190例初发 CN-AML患者的临床资料。对比研究 NPM1突变型与野生型 CN-AML 患者之间临床特征和治疗效果的差异。结果190例 CN-AML 患者中44例（23.16%）出现 NPM1基因突变。与野生组比较，突变组患者外周血白细胞计数高（60.0×109／L 比75.7×109／L，P＜0.05），骨髓中原始细胞比例高（63.87%比75.82%，P＜0.05），初次化疗缓解（完全缓解＋部分缓解）率高[56.91%（45／79）比70.09%（22／31），P＜0.05]。结论NPM1基因突变与 CN-AML 高肿瘤负荷以及高诱导化疗缓解率具有相关性。

Objective To investigate the frequency of NPM1 mutation and its clinical significance in patients with cytogenetically normal acute myeloid leukemia （CN-AML）. Methods The data of 190 patients with CN-AML were collected from Department of Hematology, Tongji Hospital between January 2008 and June 2015, and the discrepancies in clinical features and efficacy between CN-AML patients with NPM1 mutation and those without NPM1 mutation were also analyzed. Results Among the 190 CN-AML patients, NPM1 mutation was found in 44 patients （23.16 %）. The proportion of bone marrow blast cells and the count of peripheral white blood cells in patients with NPM1 mutation were higher than those in patients without NPM1 mutation （75.82 % vs. 63.87 % , P 〈0.05; 75.7 ×109/L vs. 60.0 ×109/L, P 〈0.05）. The rate of response （complete remission ＋ partial remission） in patients with NPM1 mutation was also higher than that in patients without NPM1 mutation [70.09 %（22/31） vs. 56.91 %（45/79）, P〈0.05） ]. Conclusion NPM1 mutation is associated with higher tumor burden and higher remission rate in CN-AML patients.