Khabbazpour Milad, Heiat Mohammad, Karbasi Ashraf, Zaki-Dizaji Majid
Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, Iran.
Baqiyatallah Research Center for Gastroenterology and Liver Diseases (BRCGL), Clinical Sciences Institute, Baqiyatallah University of Medical Sciences, Tehran, Iran.
Int J Mol Cell Med. 2025 Jul 1;14(2):646-655. doi: 10.22088/IJMCM.BUMS.14.2.646. eCollection 2025.
Early detection is crucial for improving survival rates in colorectal cancer (CRC). This study evaluates the non-invasive diagnosis of polyps by assessing the methylation status of the TFPI2 and SDC2 genes in plasma. This study enrolled 27 individuals with low-risk polyps (LRP), 27 with high-risk polyps (HRP), and 27 healthy controls. The quantitative methylation levels of TFPI2 and SDC2 genes were analyzed in plasma cell-free DNA (cfDNA) using the methylation-quantification endonuclease-resistant DNA (MethyQESD) method. Increased methylation percentages of both TFPI2 (TFPI2_1 and TFPI2_2) and SDC2 (SDC2_2) were observed in individuals with LRP and HRP. The combination of SDC2 and TFPI2 yielded an Area Under the Curve (AUC) of 0.732 (95% CI 0.78 to 0.96, p=0.001) with a sensitivity of 66% (95% CI 46% - 82%) and specificity of 77% (95 CI 56% - 91%) for LRP. For HRP, the AUC was 0.890 (95% CI 0.596 to 0.843, p<0.001) with a sensitivity of 70% (95% CI 51% - 84%) and specificity of 92% (95 CI 75% - 99%). The combined assessment of SDC2 and TFPI2 methylation presents a potential approach for the early non-invasive detection of CRC and its associated precancerous lesions.
早期检测对于提高结直肠癌（CRC）的生存率至关重要。本研究通过评估血浆中TFPI2和SDC2基因的甲基化状态来评估息肉的非侵入性诊断。本研究纳入了27例低风险息肉（LRP）患者、27例高风险息肉（HRP）患者和27名健康对照者。使用甲基化定量抗核酸内切酶DNA（MethyQESD）方法分析血浆游离DNA（cfDNA）中TFPI2和SDC2基因的定量甲基化水平。在LRP和HRP患者中均观察到TFPI2（TFPI2_1和TFPI2_2）和SDC2（SDC2_2）的甲基化百分比增加。SDC2和TFPI2的联合检测对于LRP的曲线下面积（AUC）为0.732（95%CI 0.78至0.96，p=0.001），灵敏度为66%（95%CI 46%-82%），特异性为77%（95%CI 56%-91%）。对于HRP，AUC为0.890（95%CI 0.596至0.843，p<0.001），灵敏度为70%（95%CI 51%-84%），特异性为92%（95%CI 75%-99%）。SDC2和TFPI2甲基化的联合评估为CRC及其相关癌前病变的早期非侵入性检测提供了一种潜在方法。
