肠癌血液多基因甲基化检测对结直肠癌高危人群筛查价值的研究  

Study on the screening value of blood-based multilocus methylation test for colorectal cancer in high-risk groups

作　　者：胡启华 欧爱芝 王蓉 林迪莎 李红[1] 叶新萍[1] HU Qihua;OU Aizhi;WANG Rong;LIN Disha;LI Hong;YE Xinping(The First Hospital of Hunan University of Chinese Medicine,Changsha 410007,Hunan,China;Hunan University of Chinese Medicine,Changsha 410208,Hunan,China)

机构地区：[1]湖南中医药大学第一附属医院,湖南长沙410007 [2]湖南中医药大学,湖南长沙410208

出　　处：《中国现代手术学杂志》2023年第5期367-372,共6页Chinese Journal of Modern Operative Surgery

摘　　要：目的 验证肠癌血液多基因甲基化检测技术应用于体检人群结直肠癌筛查的可行性,了解肠癌血液多基因甲基化检测在不同风险人群中筛查的效果。方法 入组体检受试者447例,进行肠癌血液多基因甲基化检测,检测阳性的受试者推荐进行肠镜检查,明确肠镜及病理结果。分析肠癌血液多基因甲基化检测阳性率、病变检出率以及灵敏度和阳性预测值(positive predictive value, PPV);将入组受试者分为高危组[满足年龄≥50岁、男性、具有不良指标(高血脂、吸烟史、饮酒史、BMI≥24 kg/m2四者有其二)人群]与对照组,分析肠癌血液多基因甲基化检测在不同风险人群中的筛查效果。结果 447例入组体检受试者中有35例(7.8%)检测结果呈阳性,其中28例接受了肠镜检查,肠镜依从性80%(28/35),肠镜异常(CRC、腺瘤、息肉、黏膜炎)检出率89.3%(25/28),结直肠癌及腺瘤检出率为28.6%(8/28)。肠癌血液多基因甲基化检测在体检人群中对肠镜异常结果筛查的灵敏度为89.3%, PPV为89.3%;对结直肠癌和腺瘤筛查的灵敏度和PPV分别为100%和28.6%。高危组与对照组甲基化检测阳性率具有显著性差异(15.3%vs.6.1%,P=0.004);两组肠镜异常检出率也具有显著性差异(12.9%vs.3.9%,P=0.003)。高危组中多基因甲基化检测对肠镜异常结果筛查的灵敏度为100%, PPV为91.7%,对结直肠癌和腺瘤筛查的灵敏度和PPV分别为100%和25%。在对照组中对肠镜异常结果筛查的灵敏度为82.4%, PPV为87.5%,对结直肠癌和腺瘤筛查的灵敏度和PPV分别为100%和31.2%。多基因甲基化检测筛查肠镜异常患者的灵敏度高于癌胚抗原(89.3%vs.29.6%)。结论肠癌血液多基因甲基化检测技术能够有效筛查肠道恶性肿瘤等肠道疾病,该技术应用于结直肠癌高危因素人群筛查具有更好的效果。Objective To evaluate the feasibility of a blood-based test targeting circulating tumor DNA methylation for colorectal cancer(CRC)and colorectal disease screening in the health check-up population,and to explore the value of this multilocus methylation test as a screening method in different risk groups.Methods Blood samples from 447 physical examination subjects were collected and underwent multilocus methylation test in this study.Subjects with positive results were recommended to take colonoscopy and then the positive rate,the lesion detection rate,sensitivity,and positive predictive value(PPV)of the test were ana-lyzed.Then the patients were divided into the high-risk group[≥50 years old,male,with adverse indicators(at least met two of the four factors:hyperlipidemia,smoking history,drinking history,and BMI≥24 kg/m2)]and the control group,to explore the screening effect of the test in different risk populations.Results A total of 447 subjects were enrolled in this study.In 35 cases with positive test results,there were 28 cases received colonoscopy with a compliance rate of 80%(28/35).The abnormal colonoscopy(CRC,adenoma,polyp,and inflammation)detection rate was 89.3%(25/28)and the CRC or adenoma detection rate was 28.6%(8/28).The sensitivity and PPV for abnormal colonoscopy results was 89.3%and 89.3%respectively,and the sensi-tivity and PPV for CRC and adenoma patients was 100%and 28.6%respectively.The positive rate of the test in the high-risk group and the control group had a significant difference(15.3%vs.6.1%,P=0.004),and the abnormal detection rate between the two groups had a significant difference too(12.9%vs.3.9%,P=0.003).In the high-risk group,the sensitivity and PPV for abnormal colonoscopy results was 100%and 91.7%respec-tively,while in the control group was 82.4%and 87.5%.For CRC and adenoma screening,the sensitivity and PPV of the test in the high-risk group was 100%and 25%respectively,and in the control group was 100%and 31.2%respectively.The test was more sensitive than carcinoembryonic an

关 键 词：结直肠肿瘤 高危人群 多基因甲基化检测 筛查 

分 类 号：R735.34[医药卫生—肿瘤]