单靶点粪便DNA甲基化检测在中国结直肠癌及癌前病变区域大规模筛查中的有效性
Effectiveness of single-target fecal DNA methylation test in regional mass screening for colorectal cancer and precancerous lesions in China.
作者信息
Kong Xianhe, Wu Qiuning, Zhang Zhi, Yu Zhiqiang, Niu Feng, Wang Xianshu, Zou Hongzhi
机构信息
Department of General Surgery (Gastrointestinal Endoscopy), The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, P. R. China.
Guangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Diseases, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, P. R. China.
出版信息
Gastroenterol Rep (Oxf). 2025 Apr 15;13:goaf029. doi: 10.1093/gastro/goaf029. eCollection 2025.
BACKGROUND
Colorectal cancer (CRC) is the third-most-common malignancy and the second-leading cause of cancer-related deaths worldwide and current screening methods such as guaiac-based fecal occult blood test (gFOBT), fecal immunochemical test (FIT), and colonoscopy have their own pros and cons. This study aimed to assess the effectiveness of a fecal DNA methylation test by using methylated (m) as the epigenetic biomarker for detecting CRC in a screening-naïve population.
METHODS
Fecal m test and FIT were simultaneously performed on eligible 40- to 74-year-old adults of a regional township in China. Subjects with positive results were recommended for colonoscopy. Data of positivity rates, positive predicted values (PPVs), and detection rates associated with clinical characteristics were analysed.
RESULTS
The positivity rate of m was 7.6% for 10,578 participants with valid results from both fecal m test and FIT. With an adherence rate of 63.8% to colonoscopy referral, 25 CRCs, 189 advanced adenomas (AAs), and 165 non-advanced adenomas (NAAs) and polyps were detected. The PPVs of m were 4.93%, 37.28%, and 32.54% for CRC, AA, and non-advanced lesions, respectively. When the CRCs and AAs were counted as positive findings, the fecal m test showed a higher detective rate than FIT (relative risk [RR], 1.313 [1.129-1.528], <0.001). When NAAs and polyps were also specified as treatable lesions, the m test was more effective in detecting these benign growths (RR, 1.872 [1.419-2.410]; <0.001). A combination of m and FIT detected 29 CRCs, 298 AAs, and 234 NAAs and polyps. Overall, the fecal m test had a higher detection rate for both advanced and non-advanced colonic lesions. The false-positive rate of the fecal m test was comparable to that of FIT (RR, 1.169 [0.974-1.403]; =0.113).
CONCLUSIONS
The single-target stool-based m test can effectively and accurately detect CRC and precancerous lesions in a large-scale CRC-screening program.
TRIAL REGISTRATION NUMBER
NCT05374369.
背景
结直肠癌（CRC）是全球第三大常见恶性肿瘤，也是癌症相关死亡的第二大主要原因，目前的筛查方法，如基于愈创木脂的粪便潜血试验（gFOBT）、粪便免疫化学试验（FIT）和结肠镜检查都有各自的优缺点。本研究旨在评估以甲基化（m）作为表观遗传生物标志物的粪便DNA甲基化检测在未进行过筛查的人群中检测CRC的有效性。
方法
对中国某地区乡镇40至74岁符合条件的成年人同时进行粪便m检测和FIT。结果呈阳性的受试者被建议进行结肠镜检查。分析了阳性率、阳性预测值（PPV）以及与临床特征相关的检出率数据。
结果
10578名同时进行粪便m检测和FIT且结果有效的参与者中，m的阳性率为7.6%。结肠镜检查转诊的依从率为63.8%，共检测出25例CRC、189例高级别腺瘤（AA）、165例非高级别腺瘤（NAA）和息肉。m对CRC、AA和非高级别病变的PPV分别为4.93%、37.28%和32.54%。当将CRC和AA计为阳性结果时，粪便m检测的检出率高于FIT（相对风险[RR]，1.313[1.129 - 1.528]，<0.001）。当NAA和息肉也被指定为可治疗病变时，则m检测在检测这些良性生长方面更有效（RR，1.872[1.419 - 2.410]；<0.001）。m和FIT联合检测出29例CRC、298例AA以及234例NAA和息肉。总体而言，粪便m检测对高级别和非高级别结肠病变的检出率均较高。粪便m检测的假阳性率与FIT相当（RR，1.169[0.974 - 1.403]；=0.113）。
结论
基于粪便的单靶点m检测可在大规模CRC筛查项目中有效且准确地检测CRC及癌前病变。
试验注册号
NCT05374369。
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