成人正常核型原发急性髓系白血病中TET2突变情况及临床意义  

TET2 mutation and its clinical significance in adult normal karyotype acute myeloid leukemia

作　　者：李佳佳[1] 朱俊锋[1] 周黎黎[1] 朱凯[1] 张凤[1] 孙自敏 张竞竞[1] 

机构地区：[1]蚌埠医学院第一附属医院,安徽蚌埠233000 [2]安徽医科大学附属省立医院

出　　处：《山东医药》2017年第45期16-19,共4页Shandong Medical Journal

基　　金：安徽省高等学校自然科学研究一般项目(KJ2015B88by);蚌埠医学院院级课题基金(BYKY1470)

摘　　要：目的探讨成人正常核型原发急性髓系白血病(AML)患者中TET2突变情况及其临床意义。方法收集98例成人正常核型原发AML患者的骨髓标本,PCR扩增目的片段,然后进行直接测序检测TET2突变情况,并探讨TET2突变与AML患者临床特征、疗效及生存率的关系。结果 23例AML患者出现TET2突变,且突变的白血病类型多为M2、M5型;与TET2野生型AML患者相比,TET2突变患者骨髓原始细胞、白细胞计数高,血小板计数低(P均<0.05),且TET2突变型患者具有较短的总生存期;TET2突变型患者的年龄、性别、血红蛋白、化疗方案、化疗疗效、危险分层、FLT3-ITD和NPM1突变与TET2野生型患者相比差异均无统计学意义(P均>0.05)。结论成人正常核型原发AML患者中TET2突变发生率较高,与其预后差有关。Objective To investigate the TET2 mutation and its significance in patients with acute myeloid leukemia（ AML）. Methods The bone marrow samples from 98 patients with newly diagnosed AML were collected. The target fragments were amplified by polymerase chain reaction（ PCR）. Then,TET2 mutations were detected by direct sequencing,and we explored the relationships between the TET2 mutation and the clinical features,efficacy,and survival rate of AML patients. Results Twenty-three patients had TET2 mutations（ 23. 46%）. M2 and M5 were the main mutant types.Compared with the TET2 wild type group,the number of primitive cells,peripheral blood leukocyte count,and blood platelet count were lower in the TET2 mutant group（ all P〈 0. 05）,and the TET2 mutant patients had a poor overall survival rate. No significant difference was found in the age,sex,hemoglobin,chemotherapy regimen,chemotherapy efficacy,risk stratification,FLT3-ITD,and NPM1 mutations between the TET2 wild type group and TET2 mutant group（ all P 〉0. 05）. Conclusion The incidence rate of TET2 mutation is higher in AML patients,which is related to the poor prognosis of patients.

关 键 词：急性髓系白血病 TET2突变 预后 成年人 

分 类 号：R733.71[医药卫生—肿瘤]