Objective: To evaluate the effectiveness of PAX1 methylation gene testing in cervical lesions where the squamocolumnar junction (SCJ) is incompletely visible.
Methods: For patients with TCT ≥ ASCUS or HR-HPV positivity, whose colposcopy results indicate incomplete visibility of the SCJ, cervical exfoliated cells were collected for PAX1 gene methylation testing. Using histopathology results as the gold standard, the study calculated the positive rate of PAX1 methylation testing across various lesion grades, assessing the sensitivity, specificity, positive predictive value, negative predictive value, and positive concordance rate with histopathology for high-grade cervical lesions.
Results: The PAX1 positivity rates in the cervicitis, LSIL, HSIL, and CC groups were 30% (3/10), 30.43% (7/23), 51.28% (20/39), and 71.42% (5/7), respectively. The positivity rate in the LSIL group (cervicitis and LSIL), at 29.72% (11/37), was significantly lower than in the HSIL+ group (HSIL and CC), which was 54.76% (23/42) (P < 0.05). For HSIL+ lesions, PAX1 methylation testing showed a sensitivity of 54.76%, specificity of 70.27%, positive predictive value of 67.65%, negative predictive value of 57.78%, positive likelihood ratio of 1.84, and negative likelihood ratio of 0.22. In comparison, HPV testing for HSIL+ showed a sensitivity of 100% and specificity of 13.51%; TCT testing for HSIL+ had a sensitivity of 35.71% and specificity of 94.59%. The positive concordance rate with histopathology was 97.1% for the PAX1 group, 95.9% for the high-risk HPV group, and 100% for the TCT group.
Conclusion: The overall efficacy of PAX1 in diagnosing high-grade cervical lesions is relatively high, enhancing diagnostic accuracy to a certain extent and making it suitable for further clinical application and promotion.
Keywords: PAX1 gene methylation; cervical cancer diagnosis; cervical lesions; colposcopy; high-grade squamous intraepithelial lesion; sensitivity and specificity.
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