Introduction/Background With the increasing incidence and early onset of endometrial cancer, there is a need for improved diagnostic methods in reproductive-aged women presenting with abnormal uterine bleeding (AUB). This study aims to evaluate the diagnostic potential of DNA methylation detection compared to other non-invasive approaches for endometrial cancer screening.

Methodology A prospective study was conducted involving 517 reproductive-aged women with AUB, who underwent hysteroscopy at a tertiary hospital. Cervical exfoliated cells were collected for cytology, human papillomavirus (HPV) testing, and DNA methylation analysis. Clinical information and transvaginal ultrasound measurements were also obtained. Univariate logistic regression and receiver operating characteristic curve analysis were performed to assess the risk factors and diagnostic efficacy of DNA methylation detection.

Results Age, body mass index (BMI) ≥25 kg/m², endometrial thickness ≥11 mm, CDO1 ΔCt ≤ 8.4, CELF4 ΔCt ≤ 8.8, and combined gene methylation showed significant associations with endometrial cancer in young women (p < 0.05). The highest diagnostic accuracy (AUC = 0.90) for endometrial cancer was achieved with CDO1/CELF4 methylation testing. Sensitivity and specificity were 91.7% and 88.8%, respectively. Combining transvaginal ultrasound with DNA methylation testing improved sensitivity to 95.8% but decreased specificity to 68.0%.

Conclusion DNA methylation detection in cervical cells provides enhanced accuracy for endometrial cancer diagnosis in reproductive-aged women with AUB. The combination of CDO1 and CELF4 methylation testing with transvaginal ultrasound improves sensitivity, highlighting its potential as a valuable screening approach.

Disclosures No potential conflict of interest was reported by the authors.