TET2、IDH1基因突变在老年急性髓系白血病中的研究  

Mutation of TET2and IDH1genes in elderly patients with acute myeloid leukemia

作　　者：魏计锋[1] 仇惠英 陈泽[1] 陈广华[1] 苗蕾[1] 王莹[1] 赵利东[1] 蔡志梅[1] WEI Jifeng;QIU Huiying;CHEN Ze;CHEN Guanghua;MIAO Lei;WANG Ying;ZHAO Lidong;CAI Zhimei(Department of Hematology,Lianyungang First People’s Hospital,Lianyungang,222000,China;Jiangsu Institute of Hematology)

机构地区：[1]连云港市第一人民医院血液科,江苏连云港222000 [2]江苏省血液研究所

出　　处：《临床血液学杂志》2021年第7期502-505,共4页Journal of Clinical Hematology

摘　　要：目的:探讨老年急性髓系白血病(AML)患者表观遗传学调控基因TET2、IDH1突变的发生率,并了解其临床特征。方法:采用基因组DNA-PCR方法扩增TET2、IDH1基因外显子,基因测序来分析其基因突变,同时检测NPM1、FLT3-TKD、FLT3-ITD、C-KIT、CEPBA、JAK2V617及MLL-PTD突变情况,随访判定其疗效。结果:50例老年AML(非APL)患者中,12例患者检测到TET2基因突变,8例患者检测到IDH1基因突变,19例(38%)患者检测到至少一种表观遗传学调控基因的突变。TET2及IDH1基因突变与NPM1基因突变有一定的相关性。TET2、IDH1基因突变易发于正常核型的老年AML患者中,在25例正常核型的老年AML患者中,发生TET2或IDH1基因突变为13例,发生率为52.0%(P<0.05)。老年AML患者加用去甲基药物联合化疗可能有较高的完全缓解率。结论:在老年AML患者中,TET2和IDH1两种基因突变较为常见,尤其在正常核型的老年AML中,TET2、IDH1基因突变与患者的临床特点、疗效有一定相关性,对指导老年AML的个体化治疗有一定的意义。Objective: To investigate the incidence of TET2 and IDH1 mutations in elderly patients with acute myeloid leukemia(AML). Methods: TET2 and IDH1 exons were amplified by genomic DNA-PCR, and their gene mutations were analyzed by gene sequencing. NPM1, FLT3-TKD, FLT3-ITD, C-KIT, CEPBA, JAK2 V617 F and MLL-PTD mutations were detected at the same time. Results: Among the 50 elderly AML(non-APL) patients, TET2 gene mutations were detected in 12 patients, IDH1 gene mutations were detected in 8 patients, and at least one epigenetic regulatory gene mutation was detected in 19 patients(38%). In addition, TET2 and IDH1 gene mutations were prone to occur in elderly AML patients with normal karyotype. Among 25 patients with normal karyotypes, TET2 or IDH1 gene mutations occurred in 13 cases, with an incidence of 52.0%(P<0.05). Elderly AML patients with demethylation drugs combined with chemotherapy may have a higher complete remission rate. Conclusion: TET2 and IDH1 gene mutations are common in elderly patients with AML, especially in elderly patients with normal karyotype. The mutation of DNA methylation regulation gene is related to clinical characteristics and curative effect of patients, which has certain significance for guiding the individual chemotherapy of elderly AML.

关 键 词：老年急性髓系白血病 表观遗传学 TET2基因 IDH1基因 DNA突变 疗效 

分 类 号：R733.71[医药卫生—肿瘤]