Development and validation of hypermethylated gene markers in cervical cytological samples for detecting endometrial cancer (EndoMethy-I trial) - Report - MDSpire

Development and validation of hypermethylated gene markers in cervical cytological samples for detecting endometrial cancer (EndoMethy-I trial)

  • By

  • Xiaojing Chen

  • Lixin Liu

  • Xitong Jin

  • Yanan Cheng

  • Huanwen Wu

  • Yan You

  • Yuligh Liou

  • Pei Liu

  • Jinghe Lang

  • Lei Li

  • June 19, 2026

  • 0 min

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Clinical Report: Identification and Assessment of Hypermethylated Gene Markers

Overview

This study identifies hypermethylated gene markers in cervical samples that may aid in the detection of endometrial cancer.

Background

Endometrial cancer is the most common gynecological cancer, with rising incidence rates globally. Current diagnostic methods, including transvaginal ultrasound and biopsy, have limitations in sensitivity and specificity, leading to a need for more effective noninvasive screening techniques. The exploration of DNA methylation as a diagnostic tool presents a promising avenue for early detection.

Data Highlights

MarkerAUC (Training Cohort)Sensitivity (Validation Set)Specificity (Validation Set)
CDO10.9394.6%92.8%
CELF40.89
NEFM0.91

Key Findings

  • Eleven hypermethylated genes were evaluated for their association with endometrial cancer.
  • The highest AUC values for detecting endometrial cancer were 0.93, 0.91, and 0.89 for CDO1, NEFM, and CELF4, respectively.
  • The combined methylation markers achieved a sensitivity of 94.6% and specificity of 92.8% in the validation cohort.
  • Integration of endometrial thickness from transvaginal ultrasound slightly improved diagnostic specificity.

Clinical Implications

The study presents cervical cytological DNA methylation assays as a method for detecting endometrial cancer.

Conclusion

Hypermethylated gene markers in cervical samples represent a promising approach for the noninvasive detection of endometrial cancer, potentially improving early diagnosis and patient outcomes.

Related Resources & Content

  1. Frontiers in Medicine, 2026 -- Validation of a cervical CDO1/CELF4 methylation test for endometrial cancer: a prospective paired-sample comparison with intrauterine specimen
  2. conexiant — Vaginal DNA Assay Shows Promise
  3. American Journal of Epidemiology — Differential Methylation and Variability Across the Epigenome as Indicators of High-Grade Cervical Intraepithelial Neoplasia (CIN2+)
  4. The ASCO Post — Epigenome-wide Study of DNA Methylation in Breast Cancer Using Prospectively Collected Samples
  5. Endometrial Cancer Screening (PDQ®) - PDQ Cancer Information Summaries
  6. NCCN Guidelines® Insights: Uterine Neoplasms, Version 3.2025 - PubMed
  7. https://www.esgo.org/media/2026/02/PocketGuidelinesA5_EndometrialCarcinoma.pdf
  8. Frontiers | Development and validation of hypermethylated gene markers in cervical cytological samples for detecting endometrial cancer (EndoMethy-I trial)
  9. Frontiers | Validation of a cervical CDO1/CELF4 methylation test for endometrial cancer: a prospective paired-sample comparison with intrauterine specimen
  10. Clinical Validation of DNA Methylation Detection in Cervical Exfoliated Cells for Endometrial Cancer in Women with Suspected Lesions | MDPI

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