中国人急性髓系白血病患者 NPM1、IDH1和IDH2基因突变检测及其临床特征研究

objective: The puropose of this study was to investigate the Gene mutation of NPM1、IDH1 and IDH2 and Clinical Characteristics in Patients with Acute Myeloid Leukemia in China. Methods: NPM1、IDH1 and IDH2 Mutations were detected in AML patients diagnosed from 2005 to 2011 by PCR,The relationship between muations and clinical features were evaluated,WT1 and CEBPA mutations were also included in analysis.Results: The results showed that the NPM1 mutation was found in 19.78% ( 54/273) The incidence of NPM1 mutation in normal karyotype AML was 31.1% ( 37/119), The AML with NPM1 mutation characterized by older age,high white cell counts, high platelet number，higher incidence in AML-M1，more possible co-existence with IDH1 and IDH2 mutation and other clinical features.The incidence of IDH1 mutation was 3.7% (9/243).The incidence of IDH2 mutation was 11.11% (27/243) The AML with IDH2 mutation characterized by older age， high platelet number，higher incidence in AML-M0 and other clinical features. The incidence of WT1 mutation was 6.25% (15/240), The incidence of CEBPA mutation was 20.33% (15/240). Conclusion: The clinical features of NPM1、IDH1 and IDH2 gene mutation in Chinese AML population had their own Characteristics,The occurrence rate vary from the data reported in foreign literature.This provides preliminary data for further exploration of the underlying cause.