Analysis of DNA methylation markers for diagnosing cervical precancer and cancer: A single‑center cross‑sectional study

Methylation biomarkers of six tumor suppressor genes (astrotactin 1, distal‑less homeobox 1, integrin subunit α 4, relaxin family peptide receptor 3, SOX17 and zinc finger protein 671) were evaluated for their diagnostic efficacy in identifying cervical precancerous lesions and cervical cancer (CC). A total of 283 cases were selected from the General Hospital of Ningxia Medical University (Yinchuan, China) between September 2023 and November 2024. Based on histopathologic diagnoses, patients were divided into four groups: The control group, intraepithelial lesions (LSIL) group, high‑grade squamous intraepithelial lesions (HSIL) group and CC group. DNA methylation detection, human papillomavirus (HPV) analysis and cytology analysis were performed. The diagnostic value of DNA methylation detection for CC was assessed by calculating the positive methylation rate, sensitivity, specificity, area under the curve (AUC) and other efficacy indicators. The positive methylation rates and methylation scores of DNA methylation in the HSIL and CC groups were significantly higher compared with those in the control and LSIL groups. Combined DNA methylation detection demonstrated the highest diagnostic efficacy for HSIL and CC, with an AUC value of 0.84, a Youden index of 0.69 and a sensitivity and specificity of 82.0 and 87.0%, respectively. In addition, the diagnostic performance of combined detection was significantly higher compared with that of HPV testing and liquid‑based cytology testing (P<0.05). In addition, the diagnostic efficacy of ZNF671 was significantly higher compared with that of the other five methylation markers, with an AUC value of 0.87, a Youden index of 0.73 and a sensitivity and specificity of 78.0 and 95.0%, respectively. Overall, multiple gene site DNA methylation detection was found to be a valuable diagnostic method for CC and may have potential applications in clinical practice.