Department of Medicine, Molecular Diagnostic Engineering Technology Research Center of Zhengzhou, Zhengzhou, China.
Department of Anorectal Surgery, The Second Hospital of Tianjin Medical University, Tianjin, China.
Genet Test Mol Biomarkers. 2024 Oct;28(10):402-409. doi: 10.1089/gtmb.2023.0754. Epub 2024 Sep 23.
Early screening for colorectal cancer (CRC) has the potential to improve patient prognosis, but current screening methods are limited. In this prospective study, we aimed to evaluate the multigene ( and ) detection in patient plasma for CRC diagnosis. Overall, 67 participants were enrolled, including 31 patients with CRC, 17 patients with colorectal polyp, and 19 normal controls who underwent colonoscopy. Carcinoembryonic antigen (CEA) and , and methylation tests were performed. Sensitivity, specificity, and the area under the receiver operating characteristic (ROC) curve were used to evaluate the diagnostic value of each biomarker. The association between positive rates of methylated , and and the clinicopathological characteristics of CRC was also analyzed. The positive rate of multigene methylation detection was 87.1% (27/31) in patients with CRC, which was higher than single indicators: CEA (51.61%, 16/31), (41.94%, 13/31), (41.94%, 13/31), (58.06%, 18/31), and (32.26%, 10/31). In the colorectal polyp group, the rate of multigene methylation detection is 88.24% (15/17), which was also higher than single indicator: CEA (17.65%, 3/17), (11.76%, 2/17), (64.71%, 11/17), (58.82%, 10/17), and (35.29%, 6/17). The ROC curves further showed better diagnostic value of the multigene test for CRC than any single gene. Correlation analysis found that the positive rate of the test was not affected by patients' clinicopathologic characteristics. The combination of methylated , and tests is preferable to individual gene tests for patients with CRC and polyp.
早期结直肠癌（CRC）筛查有可能改善患者的预后，但目前的筛查方法有限。在这项前瞻性研究中，我们旨在评估多基因（和）检测在患者血浆中的 CRC 诊断价值。共有 67 名参与者入组，包括 31 名 CRC 患者、17 名结肠息肉患者和 19 名接受结肠镜检查的正常对照者。进行了癌胚抗原（CEA）和、和甲基化检测。使用灵敏度、特异性和受试者工作特征（ROC）曲线下面积来评估每个生物标志物的诊断价值。还分析了甲基化、和阳性率与 CRC 临床病理特征之间的关系。CRC 患者多基因甲基化检测的阳性率为 87.1%（27/31），高于单项指标：CEA（51.61%，16/31）、（41.94%，13/31）、（41.94%，13/31）、（58.06%，18/31）和（32.26%，10/31）。在结肠息肉组中，多基因甲基化检测的阳性率为 88.24%（15/17），也高于单项指标：CEA（17.65%，3/17）、（11.76%，2/17）、（64.71%，11/17）、（58.82%，10/17）和（35.29%，6/17）。ROC 曲线进一步表明，多基因检测对 CRC 的诊断价值优于任何单个基因。相关性分析发现，该检测的阳性率不受患者临床病理特征的影响。对于 CRC 和息肉患者，甲基化、和联合检测优于单个基因检测。
