摘要
目的探讨急性髓系白血病(AML)中医分型与CTNNA1基因启动子区异常甲基化、TET2、FLT3-ITD、CEBPA、DNMT3A、NPM1和TP53基因突变的关系。方法选择64例AML初诊患者,按中医证型诊断标准分为气阴两虚型、毒热炽盛型、瘀血痰结型。同时选择10名健康志愿者。收集患者年龄、性别、外周血情况、细胞遗传学危险分层、核型及预后等临床资料。采用甲基化特异性PCR方法检测CTNNA1基因启动子区异常甲基化,采用PCR扩增产物测序法检测TET2、FLT3-ITD、CEBPA、DNMT3A、NPM1和TP53基因突变情况。结果各证型性别、年龄、初诊外周血HGB、PLT、原始细胞比例及亚型比较,差异均无统计学意义(P>0.05)。各证型患者外周血WBC比较,差异有统计学意义(P<0.05)。与健康人比较,AML患者CTNNA1基因异常甲基化差异有统计学意义(P<0.05),但AML不同中医证型间CTNNA1基因异常甲基化差异无统计学意义(P>0.05)。AML不同中医证型间,相关突变基因数量、预后良好基因比例和预后危险分组情况等差异有统计学意义(P<0.05)。结论不同AML中医证型存在突变基因差异,相关突变基因可以辅助AML的中医辨证分型诊断。
Objective To investigate the relationship between Chinese medical syndrome typing of acute myeloid leukemia(AML)and abnormal methylation in promoter region of CTNNA1 gene,TET2,FLT3-ITD,CEBPA,DNMT3A,NPM1 and TP53 mutation.Methods Sixty four cases of AML were recruited.According to the diagnostic criteria of Chinese medical syndrome,the patients were assigned to qi-yin deficiency syndrome,toxic heat inflaming syndrome and inter-accumulation of blood stasis and phlegm syndrome.Meanwhile,10 healthy volunteers were recruited.Clinical data including age,gender,peripheral blood status,cytogenetic risk stratification,karyotype and prognosis were collected.Abnormal methylation in promoter region of CTNNA1 gene were detected by MS-PCR.The mutations of TET2,FLT3-ITD,CEBPA,DNMT3A,NPM1 and TP53 genes were detected by PCR amplification product sequencing.Results There was no statistically significant difference in gender,age,HGB,PLT,and proportion of primitive cells in peripheral blood and subtypes(P>0.05).There was statistically significant in WBC(P<0.05).Compared with healthy persons,the abnormal methylation of CTNNA1 gene in AML patients showed significant differences(P<0.05),while there were no significant differences among different Chinese medical syndromes(P>0.05).There were significant differences in the number of related mutation genes,the proportion of genes of favorable prognosis and the prognostic risk group of AML among different Chinese medical syndromes(P<0.05).Conclusions There are mutant genetic differences among different Chinese medical syndromes of AML.Related gene mutation can be used as indicators for Chinese medical syndrome diagnosis of AML.
作者
方伟祯
蔡振华
古文深
高翔
FANG Wei-zhen;CAI Zhen-hua;GU Wen-shen;GAO Xiang(Department of Clinical Laboratory,Sun Yat-Sen Memorial Hospital Affiliated to Zhongshan University,Guangzhou,510120;Department of Clinical Laboratory,The First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine,Guangzhou,510405)
出处
《中国中西医结合杂志》
CAS
CSCD
北大核心
2020年第11期1328-1332,共5页
Chinese Journal of Integrated Traditional and Western Medicine
