Background: Epigenetic biomarkers in cancer have emerged as promising tools for early detection, prognosis, and treatment response prediction. In cervical cells, hypermethylation of the host and viral HPV-genome increases with the severity of lesions, providing a useful biomarker in the triage of hr-HPV-positive women and during treatment. The present study focuses on evaluating the clinical performance of the FAM19A4/miR124-2 methylation test in a population-based cervical screening program. Methods: Previously collected cervical samples, after bisulfite-converted DNA, were analyzed by PreCursor-M+ kit (distributed by Fujirebio Europe), for DNA methylation. The sensitivity, specificity, and negative/positive predictive values of DNA methylation were compared to histology, colposcopy, the HPV-DNA test, and cytology results. Results: Among the 61-sample set, the specificity of methylation vs. positive histology (≥CIN2) and colposcopy (≥G2) were 87% and 90%, whereas the sensitivity was 50% and 33.3%, respectively. The combination of methylation analysis with standard methods increases diagnostic accuracy. Conclusions: Overall, we found a good specificity of DNA methylation in comparison to currently used techniques. Further larger studies could support the use of FAM19A4/miR124-2 as reliable biomarkers in the prevention of cervical cancer as triage in the screening protocol.
背景：癌症中的表观遗传生物标志物已成为早期检测、预后和治疗反应预测的有前景工具。在宫颈细胞中，宿主和病毒HPV基因组的超甲基化程度随病变严重程度增加而升高，这为高危HPV阳性女性的分流管理和治疗监测提供了有用的生物标志物。本研究旨在评估基于人群的宫颈筛查项目中FAM19A4/miR124-2甲基化检测的临床效能。方法：采用PreCursor-M+试剂盒（由Fujirebio Europe分销）对既往收集的宫颈样本经亚硫酸氢盐转化后的DNA进行甲基化分析。将DNA甲基化检测的敏感性、特异性及阴性/阳性预测值与组织学、阴道镜检查、HPV-DNA检测和细胞学结果进行比较。结果：在61例样本集中，甲基化检测对阳性组织学（≥CIN2）和阴道镜检查（≥G2）的特异性分别为87%和90%，而敏感性分别为50%和33.3%。甲基化分析与标准方法的联合应用提高了诊断准确性。结论：总体而言，与现有技术相比，DNA甲基化检测显示出良好的特异性。更大规模的研究可进一步支持将FAM19A4/miR124-2作为筛查方案中可靠的分流生物标志物应用于宫颈癌预防。
肿瘤(癌症)患者之家