联合检测外周血游离Septin9、SDC2、BCAT1基因甲基化在结直肠癌诊断中的意义  

Significance of combined detection of peripheral blood free Septin9 SDC2 and BCAT1 gene methylation in the diagnosis of colorectal cancer

作　　者：谭琪[1] 宗明[1] 虞珊珊[1] 陆柳[1] 王岚 范列英[1] Tan Qi;Zong Ming;Yu Shanshan;Liu Lu;Wang Lan;Fan Lieying(Department of Clinical Laboratory,Shanghai East Hospital,Tongji University Medical School,Shanghai 200120,China)

机构地区：[1]同济大学附属东方医院检验科,上海200120

出　　处：《中华检验医学杂志》2021年第3期204-211,共8页Chinese Journal of Laboratory Medicine

摘　　要：目的探讨联合检测外周血游离Septin9、SDC2、BCAT1基因启动子甲基化对结直肠癌诊断的临床意义。方法回顾性分析2019年1月至9月同济大学附属东方医院消化科收治的患者资料,分为结直肠癌组(结肠癌62例,直肠癌59例)、癌前病变组(结直肠腺瘤77例,高级别上皮内瘤变5例)、疾病对照组(结直肠癌与进展期腺瘤阴性但存在其他肠道病变患者61例,非结直肠癌肿瘤患者17例)、健康对照组(94名)。采用荧光PCR法同步检测外周血血浆游离Septin9、SDC2、BCAT13种基因甲基化状态,分析联合检测3种基因的阳性率与结直肠临床病理特征的关系,并与癌胚抗原(CEA)阳性率作比较。将结直肠癌组按照临床TNM分期,Ⅰ、Ⅱ、Ⅲ、Ⅳ期按等级分析计数资料,通过受试者工作特征(ROC)曲线分析检测方法对疾病的诊断效能,比较ROC曲线下面积(AUC)。结果结直肠癌组血浆游离Septin9、SDC2、BCAT1基因甲基化联合检测阳性率86%(104/121),癌前病变组阳性率12%(10/82),疾病对照组阳性率4%(3/78)、健康对照组阳性率4%(4/94)。结直肠癌组血浆Septin9、SDC2、BCAT1基因甲基化联合检测阳性率明显高于其他3组(χ^(2)=237.246,P<0.001)。结直肠癌组中血浆Septin9、SDC2、BCAT1基因甲基化联合检测阳性率高于CEA阳性率(P<0.001)。血浆Septin9、SDC2、BCAT1基因甲基化联合检测在结直肠癌组中Ⅰ~Ⅳ期的阳性率依次分别为73%(16/22)、87%(34/39)、86%(30/35)和96%(24/25),与CEA组相比,血浆Septin9、SDC2、BCAT1基因甲基化联合检测在结直肠癌Ⅰ~Ⅲ期阳性率显著高于CEA(P<0.001),Ⅳ期阳性率与CEA相比差异无统计学意义(P>0.05)。ROC曲线分析Septin9、SDC2、BCAT1基因检测AUC分别为0.857(95%CI 0.810~0.903)、0.819(95%CI 0.768~0.871)、0.862(95%CI 0.816~0.909),3个基因甲基化联合检测AUC为0.889(95%CI 0.846~0.933),再联合血清CEA检测AUC为0.913(95%CI 0.874~0.951)。结肠癌患者不同性别、年龄和癌变部位与SepObjective To explore the clinical significance of combined detection of the promoter methylation of plasma free Septin9,SDC2 and BCAT1 genes in peripheral blood for the diagnosis of colorectal cancer.Methods The data of patients admitted to the Department of Gastroenterology,Shanghai East Hospital Affiliated to Tongji University from January to September 2019 were retrospectively analyzed.They were divided into colorectal cancer group(62 cases of colon cancer,59 cases of rectal cancer),precancerous lesions group(77 cases of colorectal adenoma,5 cases of high-grade intraepithelial neoplasia),interference group(61 cases of colorectal cancer and advanced adenoma negative but suffered other intestinal lesions,17 cases of non-colorectal cancer)and healthy group(94 cases).The methylation status of three genes(Septin9,SDC2 and BCAT1)in peripheral blood plasma was detected simultaneously by fluorescence PCR.The relationship between the positive rate of three genes detected jointly and the clinic pathological characteristics of colorectal cancer was analyzed and compared with serum carcinoembryonic antigen(CEA)positive rate.The colorectal cancer group was divided into stageⅠ,Ⅱ,Ⅲ and Ⅳ according to TNM stage,and the colorectal cancer group was analyzed and counted by grade.The diagnostic efficiency of detection methods was analyzed by receiver operating characteristic(ROC)curve,and the area under ROC curve(AUC)was compared.Results The positive rate of combined detection of SDC2 and BCAT1 gene methylation was higher than other three groups(χ^(2)=237.246,P<0.001).The positive rate of combined detection of plasma Septin9,SDC2 and BCAT1 gene methylation was higher than CEA in colorectal cancer group(P<0.001).The positive rates of the combined detection of plasma Septin9,SDC2 and BCAT1 gene methylation in stage Ⅰ-Ⅳ of colorectal cancer group were 73%(16/22),87%(34/39),86%(30/35)and 96%(24/25),respectively.Compared with CEA group,the positive rate of combined detection of plasma Septin9,SDC2 and BCAT1 gene methylati

关 键 词：结直肠肿瘤 Septin9 SDC2 BCAT1 甲基化 

分 类 号：R735.34[医药卫生—肿瘤]