Comparison of cervical swab and urine samples for high-risk HPV infection and PAX1 methylation in detection of cervical neoplasia

Abstract

Abstract Cervical cancer screening commonly requires clinician-collected cervical specimens, prompting interest in less invasive sampling approaches. This paired pilot study assessed agreement in high-risk human papillomavirus (hrHPV) detection and PAX1 methylation testing between cervical swab and urine specimens and evaluated their performance for cervical intraepithelial neoplasia grade 3 or worse (CIN3+). We enrolled 104 women with abnormal cervical cytology and histopathological confirmation. Among 94 pairs with valid hrHPV results, overall agreement was 94.7% (Cohen’s κ = 0.883; 95% CI, 0.783–0.983). Among 91 pairs with valid PAX1 results, agreement was 79.1% (κ = 0.446; 95% CI, 0.241–0.651). For CIN3 + detection, cervical swab and urine hrHPV testing showed sensitivities of 86.8% and 80.6% and specificities of 44.4% and 45.9%, respectively. Cervical swab and urine PAX1 methylation showed lower sensitivities of 52.6% and 41.2% but higher specificities of 85.7% and 90.0%, respectively. Rule-based combinations showed sensitivity–specificity trade-offs. In this referral-based cohort, urine hrHPV testing showed high agreement with cervical swab testing, whereas urine PAX1 methylation had lower agreement and sensitivity. Urine-based PAX1 testing remains exploratory and requires optimization and independent validation.