粪便中PRDM12、FOXE1基因甲基化检测在结直肠癌诊断中的临床应用  

The significance of PRDM12 and FOXE1 gene methylation in fecal samples for the diagnosis of colorectal cancer

作　　者：沈海涛 陈杰[2] 何成山 江波[1] 徐正 SHEN Haitao;CHEN Jie;HE Chengshan;JIANG Bo;XU Zheng(Shanghai University of Traditional Chinese Medicine Affiliated Seventh People′s Hospital,Department of Medical Laboratory,Shanghai 200137,China;Shanghai University of Traditional Chinese Medicine Affiliated Seventh People′s Hospital,Department of Nephrology,Shanghai 200137,China)

机构地区：[1]上海中医药大学附属第七人民医院医学检验科,200137 [2]上海中医药大学附属第七人民医院肾病科,200137

出　　处：《现代消化及介入诊疗》2025年第1期49-53,61,共6页Modern Interventional Diagnosis and Treatment in Gastroenterology

基　　金：上海市浦东新区卫健委卫生计生科研项目(PW2022A-22);上海市科委医学创新研究专项(22Y11921600)。

摘　　要：目的 本项研究的目的在于探究粪便样本中联合检测PRDM12与FOXE1基因启动子区域甲基化水平在结直肠癌(CRC)早期诊断中的临床效用。方法 收集了上海中医药大学附属第七人民医院2022年8月至2024年6月消化科、结直肠外科就诊患者临床资料,包括结直肠癌患者(120例)、腺瘤患者(58例)、息肉患者(54例)和健康对照组(50例)。利用荧光定量PCR技术检测粪便样本中PRDM12和FOXE1基因的甲基化水平,并结合这两个基因的甲基化水平来预测CRC的发生,同时与癌胚抗原(CEA)的阳性率进行比较。通过受试者工作特征(ROC)曲线下面积来评估联合检测PRDM12和FOXE1基因甲基化对CRC的诊断效能。结果 结直肠肿瘤患者组粪便联合检测PRDM12和FOXE1基因甲基化阳性率为81%(98/120),显著高于腺瘤组(21%,12/58)、息肉组(9%,5/54)和健康对照组(8%,4/50)(χ^(2)=79.16,P<0.001)。与CEA的检测效能相比,PRDM12和FOXE1基因联合检测的阳性率显著提高(P<0.05)。在结直肠癌患者组中,PRDM12和FOXE1基因甲基化水平显著高于其他三组(P<0.001)。ROC曲线分析显示,粪便中PRDM12和FOXE1基因甲基化检测CRC的AUC值分别为0.764(95%CI:0.693~0.835)和0.781(95%CI:0.711~0.851)。两个基因甲基化联合检测的AUC为0.860(95%CI:0.803~0.916),敏感度(74.2%)和特异度(84.1%)均高于单基因预测组。联合CEA检测的AUC为0.901(95%CI:0.856~0.946),敏感度(88.3%)和特异度(98%)高于单独使用CEA和两个基因甲基化联合检测组。结论 粪便中PRDM12和FOXE1基因甲基化的联合检测可用于临床CRC的筛查和诊断,且与CEA联合使用可以进一步提高诊断效能。Objective This study aims to evaluate the clinical application value of the combined detection of methylation in the promoter regions of PRDM12 and FOXE1 genes in fecal samples for the diagnosis of colorectal cancer(CRC).Methods Clinical data of patients who visited the Department of Gastroenterology and Colorectal surgery at the Seventh People′s Hospital of Shanghai from August 2022 to June 2024 were collected,including colorectal cancer patients(120 cases),adenoma patients(58 cases),polyp patients(54 cases),and a healthy control group(50 cases).Fluorescent quantitative PCR technology was used to detect the methylation levels of PRDM12 and FOXE1 genes in fecal samples,and the methylation levels of these two genes were combined to predict the occurrence of CRC,while comparing it with the predicted positive rate of carcinoembryonic antigen(CEA).The efficacy of PRDM12 and FOXE1 in jointly diagnose the occurrence of CRC was assessed by the area under the receiver operating characteristic(ROC) curve.Results The positive rate of combined fecal detection of PRDM12 and FOXE1 gene methylation in patients with colorectal tumors was 81%(98/120).significantly higher than that in the adenoma group(21%,12/58),polyp group(9%,5/54),and healthy control group(8%,4/50)( χ~2=79.16,P<0.001).Compared with the diagnostic efficacy of CEA,the positive rate of joint detection of PRDM12 and FOXE1 genes was also significantly increased(P<0.05).In the colorectal cancer patient group,the methylation levels of PRDM12 and FOXE1 genes were significantly higher than in the other three groups(P<0.001).ROC curve analysis showed that the AUC values for detecting CRC with methylation of PRDM12 and FOXE1 genes in feces were 0.764(95%CI:0.693~0.835) and 0.781(95%CI:0.711~0.851),respectively.The AUC for the combined detection of methylation of the two genes was 0.860(95%CI:0.803~0.916),with sensitivity(74.2%) and specificity(84.1%) both higher than those of the single gene prediction group.The AUC for combined detection with CEA was 0.901(95%CI:0.85

关 键 词：结直肠癌 PRDM12 FOXE1 ROC 甲基化 

分 类 号：R574[医药卫生—消化系统]