Real time quantitative methylation detection of PAX1 gene in cervical cancer screening

DNA methylation is currently found to be associated with the progression of cervical intraepithelial neoplasia and the development of cervical cancer. The aim of this study was to analyze the role of real time quantitative methylation detection of the PAX1 gene in cervical cancer screening.

All eligible patients who underwent multiple detections for cervical cancer were assigned to the normal cervical group (n=21), cervical intraepithelial neoplasia I group (n=7), cervical intraepithelial neoplasia II+III group (n=12), or invasive cervical cancer group (n=14) based on pathological gradings. The methylation level of the PAX1 gene was detected using the real time quantitative methylation specific polymerase chain reaction assay and assessed by △Cp value. The diagnostic performance of PAX1 methylation detection was compared with folic acid receptor mediated diagnosis, the Thinprep cytology test, and human papilloma virus (HPV) testing.

The △Cp value in the invasive cervical cancer group was (6.15±4.07), significantly lower than that in the other groups (F=26.45, p<0.001). The area under the curve (AUC) of PAX1 methylation detection was 0.902 (95% confidence interval (CI) 0.817-0.986; p<0.001), and sensitivity and specificity were 92.30% and 78.60% when the cut-off value of △Cp was 13.28. The AUC of PAX1 methylation detection was notably larger compared with 0.709 for folic acid receptor mediated diagnosis (95% CI 0.568-0.849, p=0.009), 0.702 for the Thinprep cytology test (95% CI 0.559-0.844, p=0.015), and 0.655 for HPV testing (95% CI 0.508-0.802, p=0.014).

Through quantitative methylation specific polymerase chain reaction assay characterized by rapid screening and simple operation, the methylation detection of the PAX1 gene exhibited a higher diagnostic performance and may be a promising method for cervical cancer screening.