Abou Zeid Abla A, El-Sayed Eman T, Ahdy Jylan K, Tawfik Marwa R
Clinical and Chemical Pathology, Alexandria Faculty of Medicine, Alexandria University, Alexandria, EGY.
Clinical and Chemical Pathology, Al Ramel Pediatric Hospital, Ministry of Health, Alexandria, EGY.
Cureus. 2023 Sep 21;15(9):e45687. doi: 10.7759/cureus.45687. eCollection 2023 Sep.
Background One of the most prevalent aberrant epigenetic modifications found in hepatocellular carcinoma (HCC) is abnormal DNA methylation. Our study aimed to evaluate serum Ras association domain family 1A (RASSF1A) gene promoter methylation in patients with chronic viral hepatitis C (HCV)-associated liver cirrhosis with and without HCC as a potential new marker for the early detection of HCC. Methodology The 60 participants who participated in the trial were divided into the following three groups: 20 patients with newly diagnosed primary HCC on top of HCV-related liver cirrhosis, 20 patients with HCV-related liver cirrhosis, and 20 age- and sex-matched healthy individuals as a control group. All participants underwent methylation-specific polymerase chain reaction testing to detect the blood level of the RASSF1A gene's methylated promoter. Results Methylated RASSF1A was found in 30% of patients with liver cirrhosis caused by HCV and in 65% of patients with HCC, but not in any of the controls. It was discovered that the serum methylation RASSF1A had an accuracy of 82.50% and an area under the curve (AUC) of 0.825 for separating HCC patients from healthy controls. With an AUC of 0.675 and an accuracy of 67.50%, it was able to differentiate patients with HCC from those with HCV-related liver cirrhosis. Additionally, there was no statistically significant association between RASSF1A methylation status and HCC mass size (p = 0.449). Conclusions Serum RASSF1A promoter methylation status detection could be useful for detecting HCC early, especially in high-risk individuals such as those with HCV.
肝细胞癌(HCC)中最常见的异常表观遗传修饰之一是DNA甲基化异常。我们的研究旨在评估慢性丙型肝炎病毒(HCV)相关肝硬化伴或不伴HCC患者血清中Ras关联结构域家族1A(RASSF1A)基因启动子甲基化情况,将其作为HCC早期检测的潜在新标志物。方法:参与试验的60名参与者分为以下三组:20例新诊断为原发性HCC且合并HCV相关肝硬化的患者、20例HCV相关肝硬化患者以及20名年龄和性别匹配的健康个体作为对照组。所有参与者均接受甲基化特异性聚合酶链反应检测,以检测RASSF1A基因甲基化启动子的血液水平。结果:在30%的HCV所致肝硬化患者和65%的HCC患者中发现了甲基化的RASSF1A,但对照组中均未发现。发现血清RASSF1A甲基化在区分HCC患者与健康对照方面的准确率为82.50%,曲线下面积(AUC)为0.825。其AUC为0.675,准确率为67.50%,能够区分HCC患者与HCV相关肝硬化患者。此外,RASSF1A甲基化状态与HCC肿块大小之间无统计学显著关联(p = 0.449)。结论:血清RASSF1A启动子甲基化状态检测可能有助于早期检测HCC,尤其是在HCV感染者等高风险个体中。