Methylation status of PAX1 and SF-1: implications for diagnosis and prognosis in endometrial cancer

Endometrial carcinoma (EC) is a common malignancy of the female reproductive system, often diagnosed at advanced stages due to the lack of reliable early biomarkers. Gene methylation has emerged as a key epigenetic mechanism in cancer development, offering potential for early detection and prognostic evaluation. This study aimed to explore the methylation status of Paired Box Gene 1 (PAX1) and Steroidogenic Factor 1 (SF-1) as potential biomarkers for EC diagnosis and prognosis. A total of 110 EC patients and 75 non-EC patients, enrolled between January 2020 and January 2022, were retrospective analyzed using methylation-specific polymerase chain reaction (MSP) to assess the clinical utility of PAX1 and SF-1 methylation in diagnosis, prognosis, and recurrence surveillance. EC patients exhibited significantly higher PAX1 and SF-1 methylation levels compared to controls, with SF-1 methylation showing superior diagnostic efficacy (AUC = 0.735). PAX1 methylation was significantly associated with key clinicopathological features, including tumor differentiation grade (P = 0.001), FIGO staging (P < 0.001), and myometrial invasion depth (P = 0.030). It also showed a strong correlation with overall survival (OS) and cumulative incidence of recurrence (CIF) (P < 0.001). These results highlight the important role of PAX1 methylation in the diagnosis and prognostic evaluation of EC. Multivariate Cox regression analysis identified PAX1 methylation positivity as an independent risk factor for poor prognosis, whereas SF-1 methylation had limited prognostic impact. These findings highlight PAX1 methylation as a valuable biomarker for enhancing diagnostic accuracy and refining prognostic stratification in EC. In contrast, SF-1 methylation primarily contributes to diagnosis. Together, these results offer new insights into the development of personalized diagnostic and therapeutic strategies for EC.