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鄂托克前旗粪便SDC2、ADHFE1和PPP2R5C基因甲基化检测用于筛查结直肠癌的效果分析

Analysis of the effect of fecal SDC2, ADHFE1 and PPP2R5C gene methylation test for screening colorectal cancer in the Otog Front Banner.

作者信息

Zeng Fan, Chen Shiiu, Zhu Xuli, Chen Jinrun, Lan Maochong, Chen Runxiang, Zhang Daya, Chen Chen, Huang Shimei, Li Da, Zhang Xiaodong, Bai Feihu

机构信息

The Second School of Clinical Medicine, Hainan Medical University, Haikou, 571199, China.

Otog Front Banner Peoples Hospital, Inner Mongolia Autonomous Region, China, 016200, Ordos, 016200, China.

出版信息

BMC Gastroenterol. 2025 Apr 30;25(1):324. doi: 10.1186/s12876-025-03737-x.

DOI:10.1186/s12876-025-03737-x
PMID:40307680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12042555/
Abstract

OBJECTIVE

The incidence of colorectal cancer (CRC) is gradually increasing, making the prevention and early detection of CRC a global priority. The purpose of this study is to evaluate the effect of fecal SDC2, ADHFE1, and PPP2R5C gene methylation on the screening of early CRC in the Otog Front Banner.

METHODS

This is a retrospective study that collected and analyzed data from the early colorectal cancer screening program conducted in five community health centers in the Otog Front Banner, from January 2023 to October 2023. The study collected stool samples from subjects meeting the inclusion and exclusion criteria, extracted genomic DNA from the feces, and modified it with sulfite. Methylation-specific polymerase chain reaction (MSP) was then used to detect the methylation status of the SDC2, PPP2R5C, and ADHFE1 genes, completing the early screening for colorectalcancer. Individuals with positive screening outcomes were advised to undergo a colonoscopy, and ultimately, all participants completed the questionnaire on high-risk factors for colorectal cancer . The chi-square test was utilized to analyze the positive rates of fecal SDC2, ADHFE1, and PPP2R5C gene methylation screenings, colonoscopy compliance, the positive predictive value of intestinal lesions, and to assess the risk factors associated with cancer.

RESULTS

A total of 9,135 effective screeners were included in this study, and 636 of them tested positive during the initial screening, yielding a positive rate of 6.9%. The positive predictive value was 50.9% for all intestinal lesions, 1.4% for colorectal cancer , and 9.7% for advanced adenoma.

CONCLUSION

Fecal SDC2, ADHFE1, and PPP2R5C gene methylation detection methods can serve as primary screening tools, supplemented by colonoscopy, to effectively detect colorectal cancer and precancerous lesions. This strategy may prove to be an effective approach for conducting large-scale colorectal cancer screening in average-risk populations.

摘要

目的

结直肠癌(CRC)的发病率正在逐渐上升,使得CRC的预防和早期检测成为全球优先事项。本研究的目的是评估粪便中SDC2、ADHFE1和PPP2R5C基因甲基化对鄂托克前旗早期CRC筛查的效果。

方法

这是一项回顾性研究,收集并分析了2023年1月至2023年10月在鄂托克前旗五个社区卫生中心开展的早期结直肠癌筛查项目的数据。该研究收集了符合纳入和排除标准的受试者的粪便样本,从粪便中提取基因组DNA并用亚硫酸盐进行修饰。然后使用甲基化特异性聚合酶链反应(MSP)检测SDC2、PPP2R5C和ADHFE1基因的甲基化状态,完成结直肠癌的早期筛查。建议筛查结果呈阳性的个体接受结肠镜检查,最终,所有参与者完成了结直肠癌高危因素调查问卷。采用卡方检验分析粪便SDC2、ADHFE1和PPP2R5C基因甲基化筛查的阳性率、结肠镜检查依从性、肠道病变的阳性预测值,并评估与癌症相关的危险因素。

结果

本研究共纳入9135名有效筛查者,其中636人在初次筛查时检测呈阳性,阳性率为6.9%。所有肠道病变的阳性预测值为50.9%,结直肠癌为1.4%,高级别腺瘤为9.7%。

结论

粪便SDC2、ADHFE1和PPP2R5C基因甲基化检测方法可作为初筛工具,并辅以结肠镜检查,以有效检测结直肠癌及癌前病变。该策略可能是在平均风险人群中开展大规模结直肠癌筛查的有效方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d25/12042555/0ec92c1a416c/12876_2025_3737_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d25/12042555/0ec92c1a416c/12876_2025_3737_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d25/12042555/0ec92c1a416c/12876_2025_3737_Fig1_HTML.jpg

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本文引用的文献

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Factors influencing the acceptability of alcohol drinking for a patient with colorectal cancer.影响结直肠癌患者接受饮酒因素。
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Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening.
粪便 DNA 中 SDC2/ADHFE1/PPP2R5C 甲基化的联合检测用于结直肠癌筛查。
J Cancer Res Clin Oncol. 2023 Sep;149(12):10241-10253. doi: 10.1007/s00432-023-04943-4. Epub 2023 Jun 3.
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Colon Cancer Screening Methods: 2023 Update.结肠癌筛查方法:2023年更新
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[Application study of stool-based methylated SDC2 test in the screening of colorectal neoplasms for physical examination population].基于粪便的甲基化SDC2检测在体检人群结直肠肿瘤筛查中的应用研究
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