SOX1、PAX1基因甲基化检测在高危型人乳头状瘤病毒阳性患者中的应用  

Application of SOX1 and PAX1 gene methylation detection in HR-HPV-positive patients

作　　者：张杰 康峻岭 周智慧 ZHANG Jie;KANGJun-ling;ZHOU Zhi-hui(Department of Genetics,Shenyang Maternity and Child Health Care Hospital,Shenyang 110000,Liaoning,CHINA)

机构地区：[1]沈阳市妇幼保健院遗传科,辽宁沈阳110000

出　　处：《海南医学》2025年第5期699-702,共4页Hainan Medical Journal

基　　金：辽宁省沈阳市卫生健康委员会科研项目(编号:202386)。

摘　　要：目的研究高危型人乳头状瘤病毒(HR-HPV)阳性患者的SOX1、PAX1基因甲基化状态,探讨SOX1、PAX1基因甲基化在宫颈癌及癌前病变筛查中的应用价值。方法前瞻性选取2023年1月至2024年6月于沈阳市妇幼保健院就诊的208例HR-HPV感染者作为研究对象,收集宫颈脱落细胞和组织标本,分别进行细胞学TCT和SOX1、PAX1基因甲基化检测及组织病理学检测。以组织病理学为标准,计算各级别病变中SOX1、PAX1基因甲基化的阳性表达率,并与细胞学TCT结果进行对比分析,评价两者识别高级别鳞状上皮内病变(HSIL)的检测性能。结果细胞学TCT分组中正常宫颈组、低级别病变组、高级别病变以及鳞状细胞癌组的SOX1、PAX1基因甲基化阳性率分别为14.3%、43.5%、73.6%和92.0%;组织病理学分组中炎症组、LSIL组、HSIL组以及宫颈鳞癌组的SOX1、PAX1基因甲基化阳性率分别为9.9%、23.4%、80.3%和95.8%;两种分组方法中甲基化的阳性率均随着病理级别升高而升高,组间比较差异均有统计学意义(P<0.05)。在组织病理学HSIL组中,SOX1、PAX1甲基化阳性率为80.3%,明显高于细胞学TCT的63.6%,差异有统计学意义(P<0.05);在宫颈鳞癌组中,SOX1、PAX1甲基化虽然展现出了较高的阳性率,但差异无统计学意义(P>0.05)。SOX1、PAX1甲基化检测识别HSIL的灵敏度和阴性预测值分别为84.4%和87.7%,明显高于细胞学TCT的67.7%和77.7%,差异均有统计学意义(P<0.05)。同时,SOX1、PAX1甲基化检测与细胞学TCT具有相似的特异性和阳性预测值。结论SOX1、PAX1基因甲基化的检测在宫颈癌防控中具有优异的综合检测性能,可作为宫颈癌及高级别癌前病变诊断的潜在指标,可为HR-HPV阳性人群的新型分流策略提供参考依据。Objective To study the methylation status of SOX1 and PAX1 genes in high-risk human papillomavirus(HR-HPV)-positive patients and investigate the application value of SOX1 and PAX1 genes methylation in screening of cervical cancer and precancerous lesions.Methods The study subjects comprised 208 patients who were diagnosed with HR-HPV and underwent treatment at Shenyang Maternity and Child Health Care Hospital between January 2023 and June 2024.Tissue histopathological specimen and exfoliated cervical cells were collected from the patients,and histopathology and methylation of SOX1 and PAX1 genes were detected respectively.Based on histopathological criteria,the positive rates of methylation of SOX1 and PAX1 genes were analyzed and compared with the results of thin layer liquid-based cytology(TCT),to evaluate the detection performance of the two methods in identifying high-grade lesions.Results In the cytological TCT group,the positive methylation rates of SOX1 and PAX1 were 14.3%in normal cervix,43.5%in low-grade lesions,73.6%in high-grade lesions,and 92.0%in squamous cell carcinoma.In the histopathology groups,the rates were 9.9%in inflammation,23.4%in low-grade squamous intraepithelial lesions(LSIL),80.3%in high-grade squamous intraepithelial lesions(HSIL),and 95.8%in cervical squamous cell carcinoma.The methylation rates increased with the severity of pathological grades in both grouping methods,with statistically significant differences(P<0.05).The positive rate of SOX1 and PAX1 methylation for the HSIL was 80.3%,which was significantly higher than that of TCT(63.6%),P<0.05.However,in cervical cancer,although SOX1 and PAX1 methylation showed a high positive rate,the difference was not statistically significant(P>0.05).The sensitivity and negative predictive value of methylation detection in identifying HSIL were 84.4%and 87.7%,which were higher than 67.7%and 77.7%of TCT(P<0.05).Meanwhile,SOX1 and PAX1 methylation detection have similar specificity and positive predictive values as cytological TCT.Conclusion T

关 键 词：人乳头状瘤病毒 宫颈癌 DNA甲基化 癌前病变 

分 类 号：R737.33[医药卫生—肿瘤]