Lin Yan Die, Li Xiao Yue, Shao Li Wei, Liu Ai Jun
Department of Pathology, The Seventh Medical Center, Chinese PLA General Hospital, Beijing 100700, China.
These authors contributed equally to this work.
World J Oncol. 2025 Feb;16(1):104-112. doi: 10.14740/wjon1985. Epub 2024 Dec 31.
The correlation between methylation of paired box gene 1 () and sex determining region Y-box 1 () with human papillomavirus (HPV) infection and the progression of cervical lesions is not well understood. This study aims to explore the potential value of and as diagnostic biomarkers for cervical diseases.
A total of 139 cervical biopsy tissue samples were obtained from the Department of Pathology, the Seventh Medical Center, Chinese PLA General Hospital from 2021 to 2023. The samples include 32 cases of chronic cervicitis (inflammation group), 30 cases of low-grade squamous intraepithelial lesions (LSIL group), 50 cases of high-grade squamous intraepithelial lesions (HSIL group), and 27 cases of cervical squamous cell carcinoma (CSCC group). DNA was extracted from paraffin-embedded tissues, and the levels of HPV infection and methylation of and were detected.
The methylation index (M-index) of and in the HSIL and CSCC groups is significantly higher than in the inflammation group (both P < 0.0001), with no significant difference between the LSIL and inflammation groups. There is no significant difference in the positive and methylation rate with HPV infection and age. The positive rates of methylation in the inflammation, LSIL, HSIL, and CSCC groups were 3.13%, 10.00%, 44.00%, and 88.89%, respectively. The positive rates of methylation were 3.13%, 10.00%, 40.00%, and 77.78%, respectively, and increasing with the progression of cervical lesions (R = 0.9189/R = 0.9279, P < 0.0001/P < 0.0001). Comparing LSIL, HSIL, and CSCC with the inflammation group and using cervical biopsy pathology diagnosis as the gold standard, methylation of and is a risk factor for HSIL and CSCC, with odds ratio (OR) values significantly increasing as lesions progress. The sensitivity of and methylation to cervical lesions increases with the progression of the lesions.
Methylation of and is not associated with HPV infection. The positive rate of methylation for and is positively correlated with cervical lesions, which can serve as potential biomarkers for HSIL and CSCC. They are risk factors and potential screening indicators for HSIL and above cervical lesions.
配对盒基因1（PAX1）和性别决定区Y盒1（SOX1）的甲基化与人乳头瘤病毒（HPV）感染及宫颈病变进展之间的相关性尚不清楚。本研究旨在探讨PAX1和SOX1作为宫颈疾病诊断生物标志物的潜在价值。
2021年至2023年从中国人民解放军总医院第七医学中心病理科获取139例宫颈活检组织样本。样本包括32例慢性宫颈炎（炎症组）、30例低级别鳞状上皮内病变（LSIL组）、50例高级别鳞状上皮内病变（HSIL组）和27例宫颈鳞状细胞癌（CSCC组）。从石蜡包埋组织中提取DNA，检测HPV感染水平以及PAX1和SOX1的甲基化水平。
HSIL组和CSCC组中PAX1和SOX1的甲基化指数（M指数）显著高于炎症组（均P<0.0001），LSIL组与炎症组之间无显著差异。PAX1和SOX1甲基化阳性率与HPV感染及年龄无显著差异。炎症组、LSIL组、HSIL组和CSCC组中PAX1甲基化阳性率分别为3.13%、10.00%、44.00%和88.89%。SOX1甲基化阳性率分别为3.13%、10.00%、40.00%和77.78%，且随宫颈病变进展而升高（R=0.9189/R=0.9279，P<0.0001/P<0.0001）。以宫颈活检病理诊断为金标准，将LSIL组、HSIL组和CSCC组与炎症组进行比较，PAX1和SOX1甲基化是HSIL和CSCC的危险因素，随着病变进展优势比（OR）值显著升高。PAX1和SOX1甲基化对宫颈病变的敏感度随病变进展而增加。
PAX1和SOX1甲基化与HPV感染无关。PAX1和SOX1甲基化阳性率与宫颈病变呈正相关，可作为HSIL和CSCC的潜在生物标志物。它们是HSIL及以上宫颈病变的危险因素和潜在筛查指标。
