Aqerrout Mouna, Mharrach Imane, Anouar Tadlaoui Kaoutar, Laraqui Abdelilah, Tagajdid Mohamed Rida, Ennibi Khalid, Ennaji Moulay Mustapha
Laboratory of Virology, Oncology, Biosciences, Environment and New Energies, Faculty of Sciences and Techniques Mohammedia, University Hassan II of Casablanca, Mohammedia, MAR.
Center of Virology, Infectious and Tropical Diseases, Mohammed V Military Teaching Hospital, Rabat, MAR.
Cureus. 2024 Oct 21;16(10):e72055. doi: 10.7759/cureus.72055. eCollection 2024 Oct.
Background Bladder urothelial carcinoma (BLCA) is a major cause of morbidity and mortality worldwide, largely due to the high frequency of disease relapse and the lack of efficient endoscopic diagnostic methods. This study aimed to address this clinical gap by evaluating the potential of using adenomatous polyposis coli (APC) gene promoter methylation as a biomarker detectable in urine DNA of individuals with BLCA. Methods Methylation-specific PCR was used to determine the methylation status of the APC promoter gene in 50 bladder carcinoma patients and 50 apparently healthy individuals. Electrophoresis on agarose gel was performed for the detection of PCR products. Statistical analysis was conducted using Excel, SPSS, and Python to assess correlations and significance. Results APC promoter methylation was detected in 34 (68%) of bladder cancer cases but in only eight (16%) of healthy controls, indicating a strong association between APC promoter methylation and bladder cancer (p < 0.001). High-grade tumors were found to have significantly higher levels of APC promoter methylation, suggesting a link between APC methylation and tumor aggressiveness (p = 0.048). Smoking was identified as a significant risk factor for BLCA (p < 0.001), but no correlation was observed with the tumor stage. Conclusion APC promoter gene methylation shows a diagnostic value for BLCA and may be useful as a non-invasive marker for early detection. This study highlights the clinical utility of using a simple urine test to detect bladder cancer, particularly in early stages, and suggests that combining APC methylation with other specific biomarkers could enhance diagnostic accuracy.
膀胱尿路上皮癌（BLCA）是全球发病和死亡的主要原因，主要是由于疾病复发频率高以及缺乏有效的内镜诊断方法。本研究旨在通过评估使用腺瘤性息肉病基因（APC）启动子甲基化作为可在BLCA患者尿液DNA中检测到的生物标志物的潜力来填补这一临床空白。方法：采用甲基化特异性PCR检测50例膀胱癌患者和50例明显健康个体中APC启动子基因的甲基化状态。对PCR产物进行琼脂糖凝胶电泳检测。使用Excel、SPSS和Python进行统计分析，以评估相关性和显著性。结果：在34例（68%）膀胱癌病例中检测到APC启动子甲基化，而在仅8例（16%）健康对照中检测到，表明APC启动子甲基化与膀胱癌之间存在强关联（p<0.001）。发现高级别肿瘤的APC启动子甲基化水平显著更高，表明APC甲基化与肿瘤侵袭性之间存在联系（p=0.048）。吸烟被确定为BLCA的一个显著危险因素（p<0.001），但未观察到与肿瘤分期的相关性。结论：APC启动子基因甲基化对BLCA具有诊断价值，可能作为早期检测的非侵入性标志物有用。本研究强调了使用简单尿液检测来检测膀胱癌的临床实用性，特别是在早期阶段，并表明将APC甲基化与其他特定生物标志物结合可提高诊断准确性。
