Abstract Objective To evaluate the diagnostic performance of PAX1 gene methylation in the detection of cervical lesions and assess its potential clinical application in cervical cancer screening through both a single-centre study and a meta-analysis. Methods A retrospective analysis was conducted on 329 patients who underwent concurrent ThinPrep cytologic test (TCT), high-risk HPV testing and PAX1 methylation analysis at the Affiliated Hospital of Jining Medical University. The diagnostic accuracy of PAX1 methylation for detecting high-grade squamous intraepithelial lesions (HSIL) and cervical squamous cell carcinoma (CSCC) was assessed. Additionally, we performed a systematic review and meta-analysis, which included seven eligible studies from Asian populations. Pooled diagnostic metrics were calculated using a bivariate mixed-effects model. Heterogeneity and publication bias were evaluated using Cochran’s Q test, I2 statistics and Deeks’ funnel plot asymmetry test. Results PAX1 methylation values declined with increasing severity of cervical lesions. In clinical samples, the sensitivity and specificity for detecting CSCC were 81.3% and 94.2%, respectively. Meta-analysis yielded a pooled sensitivity of 0.87 (95% CI: 0.79–0.92), specificity of 0.75 (95% CI: 0.52–0.89) and an area under the curve (AUC) of 0.89. The diagnostic odds ratio was 20, indicating strong discriminatory performance. Conclusion PAX1 methylation demonstrates high diagnostic accuracy for cervical cancer and is a promising noninvasive biomarker for screening and triage. Further studies are needed to validate its clinical utility in diverse populations and to explore its potential role in monitoring lesion progression or regression, particularly in women managed with conservative approaches. Key messages We analysed the clinical data to verify that paired boxed gene 1 (PAX1) methylation is a potential biomarker of cervical lesions. We analysed the literature related to PAX1 methylation and summarized its diagnostic performance. The clinical and literature analysis confirmed the advantages and possible differences of PAX1 methylation diagnosis.
Diagnostic performance of PAX1 methylation as a biomarker for cervical lesions: a clinical study and meta-analysis
Man Yin,Jiahui Dai,Ronghe Sun,Yunfei Wang
Published 2025 in Annals medicus
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- Publication year
2025
- Venue
Annals medicus
- Publication date
2025-11-12
- Fields of study
Medicine
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Semantic Scholar, PubMed
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