成人急性髓细胞白血病DNMT3A基因突变的检测和临床意义  

The incidence of DNA methyltransferase 3 alpha(DNMT3A)gene mutation in patients with acute myeloid leukemia(AML)and its clinical significance

作　　者：纪濛濛 孙自敏[1] 刘会兰[1] 徐修才[1] 伍权[1] 

机构地区：[1]安徽医科大学附属省立医院血液科,安徽合肥230001

出　　处：《安徽医药》2013年第4期575-577,共3页Anhui Medical and Pharmaceutical Journal

摘　　要：目的研究急性髓细胞白血病(acute myeloid leukemia,AML)中DNA甲基转移酶3A基因(DNA methyltransferase 3 alpha,DNMT3A)突变的检出率和临床意义。方法收集70例恶性血液病病人骨髓标本,采用聚合酶链式反应技术(polymerase chainreaction,PCR)扩增目的片段,然后进行直接测序检测DNMT3A突变情况。结果 70例患者中有6例突变,全部为初发AML患者,54例初发AML患者的DNMT3A突变率为6例(突变率11.1%),其中1例为R882C突变,5例为R882H突变,在正常核型AML患者中的突变率为19.2%,在急性单核细胞白血病(acute monocytic leukemia,AML-M5)中突变率高达21.7%。DNMT3A突变组患者的年龄、性别、骨髓原始细胞数、初发时白细胞数、首次化疗缓解率等临床指标与DNMT3A野生型组相比均无统计学意义。结论 DNMT3A基因突变在AML中发生率较高,多见于正常染色体核型和AML-M5患者中,其与预后的关系有待进一步研究。Objective To evaluate the incidence of DNA methyhransferase 3 alpha（DNMT3A） gene mutation in patients with acute mye- loid leukemia（AML） and its clinical significance. Methods Polymerase chain reaction（PCR） was used to expand the target fragment be- fore detecting mutations of the DNMT3A gene in 70 acute leukemia（AL） patients with malignant hematologic disease. Results Six eases with DNMT3A mutation were found in 70 AL patients and all these 6 cases were de novo AML cases. DNMT3A mutations were identified in 6 of the 54（ 11.1% ） de novo AML patients including 1 case of R882C mutation and 5 R882H mutation. The DNMT3A mutation rate was 19.2% in AML patients with normal karyotype AML（NK-AML） and 21.7% in acute monocytic leukemia（ AML-M5 ）. The clinical parameters such as age ,gender, bone marrow blast cells, diagnostic WBC count, chemotherapy complete remission rate of the DNMT3A mutation group were not statistically different from the DNMT3A wide type group. Conclusions The DNMT3A gene has a high mutation frequency in AML patients, especially in NK-AML and AML-M5 patients. The relation between this mutation and prognosis needs further study.

关 键 词：DNMT3A基因 急性髓细胞白血病 聚合酶链式反应 

分 类 号：R733.71[医药卫生—肿瘤]