PAX1/SOX1 gene methylation as a detection and triage method for triage of high risk HPV-Positive women in cervical cancer screening
Objective: To evaluate the role of PAX1/SOX1 methylation testing in the triage of HPV-positive patients and compare its performance with traditional screening methods, including HPV genotyping and cytology. Methods: A study was conducted from February 2024 to October 2024, involving women referred f...
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| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
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| Series: | Gynecologic Oncology Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352578925001195 |
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| Summary: | Objective: To evaluate the role of PAX1/SOX1 methylation testing in the triage of HPV-positive patients and compare its performance with traditional screening methods, including HPV genotyping and cytology. Methods: A study was conducted from February 2024 to October 2024, involving women referred for colposcopy during the “two-cancer screening” in a specific region. Patients were grouped based on histopathological results [normal/cervicitis, cervical intraepithelial neoplasia 1 (CIN1), high-grade squamous intraepithelial lesion (HSIL), cervical cancer] and high-risk human papillomavirus (hrHPV) typing (HPV16/18 positive, other 12 hrHPV positive). Cervical exfoliated cell specimens were collected for PAX1/SOX1 methylation and liquid-based cytology testing. Methylation status was detected using a specific PCR-fluorescence probe kit, and cytology results were interpreted according to the 2022 Bethesda System (TBS) system. Results: The study included 640 participants. The mean Ct values of PAX1 and SOX1 decreased with the progression of cervical lesions. In the detection of high grad CIN+ (HG-CIN + ) in HPV-positive women, PAX1/SOX1 methylation testing showed higher AUCs (PAX1: 0.84; SOX1: 0.83) compared to HPV genotyping and cytology. For non-16/18 hrHPV positive cases, methylation testing had a better balance of sensitivity and specificity in detecting ≥ CIN2 and ≥ CIN3 lesions. Methylation testing also had the potential to reduce unnecessary colposcopy referrals in HPV-positive patients with cytology. Conclusions: PAX1/SOX1 methylation testing shows potential as an effective adjunct to traditional cervical cancer screening methods. It can better identify high-grade lesions in HPV-positive patients and may reduce unnecessary referrals. However, larger-scale studies and long-term follow-up are needed to confirm its efficacy and optimize its integration into routine screening protocols. |
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| ISSN: | 2352-5789 |