PAX1/JAM3基因甲基化检测对子宫颈高级别鳞状上皮内病变的预测价值OA
Predictive value of PAX1/JAM3 gene methylation testing for cervical high-grade squamous intraepithelial lesions
目的 评估PAX1/JAM3基因甲基化检测对子宫颈高级别鳞状上皮内病变(high-grade squamous intraepi⁃thelial lesion,HSIL)的预测价值.方法 纳入高危型人乳头瘤病毒(high-risk human papillomavirus,hrHPV)阳性和(或)液基薄层细胞检测(thinprep cytologic test,TCT)阳性的患者,通过病历系统回顾性收集PAX1/JAM3甲基化检测数据,并复核组织学、hrHPV及TCT结果.以组织学诊断为金标准,计算其对子宫颈上皮内瘤变(cervi⁃cal intraepithelial neoplasia,CIN)≥2级的诊断效能.结果 共469例纳入分析,甲基化阳性率随病变严重程度递增:≤CIN1组(含CIN1级及良性病变)2.5%(10/402);CIN2组50.0%(26/52);≥CIN3组(含CIN3级及癌)93.3%(14/15).以组织学≥CIN2为阳性标准,甲基化检测的敏感性为59.7%(40/67),特异性为97.5%(392/402),阳性预测值80.0%(40/50),阴性预测值93.6%(392/419),准确度为92.1%(432/469).甲基化检测对≥CIN3和CIN2的分层敏感性(特异性统一参照≤CIN1组)分别为93.3%(14/15)和50.0%(26/52).细胞学分流效能显示:非典型鳞状细胞不能排除高级别鳞状上皮内病变(atypical squamous cells cannot exclude high-grade squamous intraepi⁃thelial lesion,ASC-H)组(n=13)敏感性100.0%(5/5)、特异性100.0%(8/8),而无上皮内病变或恶性病变(nega⁃tive for intraepithelial lesion or malignancy,NILM)组特异性96.1%(198/206).结论 PAX1/JAM3甲基化检测对≥CIN3敏感性优异(93.3%),在ASC-H患者中表现突出(敏感性/特异性100%),但对CIN2敏感性有限(50.0%),需联合其他指标降低漏检风险.
Objective To evaluate the predictive value of PAX1/JAM3 gene methylation testing for high-grade squamous intraepithelial lesions(HSIL)in individuals with positive cervical cancer screening results.Methods Pa⁃tients who are positive for high-risk human papillomavirus(hrHPV)and/or positive for liquid-based thin-prep cytologic test(TCT)were included.PAX1/JAM3 methylation test data were retrospectively collected from the medical record system,and histological,hrHPV,and TCT results were reviewed.Using histology as the gold standard,the sensitiv⁃ity,specificity,predictive values,and diagnostic accuracy of methylation testing for detecting cervical intraepithelial neoplasia(CIN)≥grade 2 were calculated.Results A total of 469 cases were analyzed.Methylation positivity rates increased with disease severity:2.5%(10/402)in the≤CIN1(including CIN1 and benign lesions)group,50.0%(26/52)in CIN2,and 93.3%(14/15)in the≥CIN3(including CIN3 and cancer)group.Using histology≥CIN2 as the positive standard,methylation testing showed a sensitivity of 59.7%(40/67),specificity of 97.5%(392/402),positive predictive value(PPV)of 80.0%(40/50),negative predictive value(NPV)of 93.6%(392/419),and accu⁃racy of 92.1%(432/469).Stratified sensitivity(with specificity referenced to≤CIN1)was 93.3%(14/15)for≥CIN3 and 50.0%(26/52)for CIN2.Cytology triage analysis revealed:in the atypical squamous cells cannot exclude HSIL(ASC-H)group(n=13),sensitivity and specificity were both 100.0%(5/5 and 8/8,respectively),while the negative for intraepithelial lesion or malignancy(NILM)group showed a specificity of 96.1%(198/206).Conclu⁃sion PAX1/JAM3 methylation testing demonstrates excellent sensitivity for≥CIN3(93.3%)and outstanding perfor⁃mance in ASC-H patients(100.0%sensitivity/specificity).However,its sensitivity for CIN2 is limited(50.0%),ne⁃cessitating combined strategies to mitigate missed diagnoses.
陈贞;史姝男;胡阿锦
北京大学第三医院病理科,北京 100191||宁夏医科大学附属石嘴山市第二人民医院病理科,石嘴山 753000北京大学第三医院病理科,北京 100191北京大学第三医院病理科,北京 100191
医药卫生
子宫颈肿瘤高级别鳞状上皮内病变PAX1JAM3基因甲基化诊断价值
cervical neoplasmshigh-grade squamous intraepithelial lesionsPAX1JAM3gene methylationdiag⁃nostic value
《临床与实验病理学杂志》 2026 (9)
1151-1159,9
北京大学第三医院临床重点项目孵育项目A类(BYSYZD2024020) Category A Clinical Key Incubation Project of Peking University Third Hospital(BYSYZD2024020)
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