Kim Chang Woo, Kim Hyunjin, Kim Hyoung Rae, Won Daeyeon David, Nam Woo Jung, Min Byung Soh, Oh Tae Jeong, An Sungwhan, Lee Suk-Hwan
Department of Surgery, Ajou University Hospital, Ajou University School of Medicine, Suwon, South Korea.
Department of Surgery, Koo Hospital, Daegu, South Korea.
Am J Gastroenterol. 2025 Mar 1;120(3):614-622. doi: 10.14309/ajg.0000000000003044. Epub 2024 Aug 21.
Noninvasive stool DNA-based methylation testing has emerged as an effective strategy for the early colorectal cancer (CRC) detection. Syndecan-2 ( SDC2 ) methylation frequently occurs in all stages of CRC; therefore, the aim of this study was to evaluate the clinical performance of a stool DNA-based SDC2 methylation test for detecting CRC in asymptomatic or high-risk CRC populations.
This multicenter prospective study was conducted to determine the clinical performance of the SDC2 methylation test on stool DNA using real-time polymerase chain reaction. Stool samples were collected from asymptomatic individuals before colonoscopy, and the test results were independently analyzed through comparison with colonoscopic findings and pathological outcomes as reference standards.
Of the 1,124 evaluable participants, 20 had CRC, 73 had advanced adenomatous polyps (≥1.0 cm), 469 had nonadvanced adenomatous polyps (<1.0 cm), 178 had non-neoplastic polyps, and 384 had negative colonoscopy results. The stool SDC2 methylation test had a sensitivity and specificity of 95.0% and 81.5%, respectively, for detecting CRC, while the sensitivity for detecting advanced adenomatous polyps and CRC was 58.1%. The rate of adenoma detection increased with polyp size ( P < 0.01), and sensitivity was not associated with CRC stage ( P = 0.864).
The stool DNA-based SDC2 methylation test attained a high sensitivity for CRC detection in an asymptomatic high-risk population. Further large-scale clinical studies are required to validate the clinical utility of this test as a population-based CRC screening tool.
基于粪便DNA的无创甲基化检测已成为早期结直肠癌（CRC）检测的有效策略。Syndecan-2（SDC2）甲基化在CRC的各个阶段均频繁发生；因此，本研究的目的是评估基于粪便DNA的SDC2甲基化检测在无症状或CRC高危人群中检测CRC的临床性能。
本多中心前瞻性研究旨在确定使用实时聚合酶链反应对粪便DNA进行SDC2甲基化检测的临床性能。在结肠镜检查前从无症状个体收集粪便样本，并通过与结肠镜检查结果和病理结果作为参考标准进行比较，独立分析检测结果。
在1124名可评估参与者中，20人患有CRC，73人患有晚期腺瘤性息肉（≥1.0 cm），469人患有非晚期腺瘤性息肉（<1.0 cm），178人患有非肿瘤性息肉，384人结肠镜检查结果为阴性。粪便SDC2甲基化检测检测CRC的灵敏度和特异性分别为95.0%和81.5%，而检测晚期腺瘤性息肉和CRC的灵敏度为58.1%。腺瘤检出率随息肉大小增加而升高（P<0.01），且灵敏度与CRC分期无关（P = 0.864）。
基于粪便DNA的SDC2甲基化检测在无症状高危人群中检测CRC具有较高的灵敏度。需要进一步的大规模临床研究来验证该检测作为基于人群的CRC筛查工具的临床实用性。
