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390 Diagnostic value of dna methylation testing for endometrial cancer in menopausal women: Chinese and Spanish populations
  1. Suiqiong Lin1,
  2. Laura Costas2,3,4,
  3. Sonia Paytubi2,3,4,
  4. Lin Han1,
  5. Pei Liu1,
  6. Jordi Ponce5,6,3,
  7. Xavier Matias-Guiu7,6,3 and
  8. Lei Li8,9,10
  1. 1Department of Medical Laboratory, Beijing Origin-Poly Bio-Tec Co., Ltd, Beijing, China
  2. 2Cancer Epidemiology Research Programme, Catalan Institute of Oncology, Barcelona, Spain
  3. 3Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet De Llobregat, Spain
  4. 4Consortium for Biomedical Research in Epidemiology and Public Health - CIBERESP, Madrid, Spain
  5. 5Department of Gynecology, Hospital Universitari de Bellvitge, Hospitalet De Llobregat, Spain
  6. 6Consortium for Biomedical Research in Cancer – CIBERONC, Madrid, Spain
  7. 7Department of Pathology, Hospital Universitari de Bellvitge, Hospitalet De Llobregat, Spain
  8. 8Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing, China
  9. 9National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing, China
  10. 10State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Beijing, China


Introduction/Background Endometrial cancer (EC) is the 2nd most common reproductive tract malignancy among women. Nevertheless, the field currently suffers from a scarcity of non-invasive early detection methods, leading to delays in diagnosis and subsequent treatment. Early identification of EC through biomarkers, such as DNA methylation, may facilitate timely disease detection and enhance patient survival.

Methodology A total of 236 menopausal women(78 Spanish and 158 Chinese) with suspected endometrial lesions were enrolled for the diagnostic accuracy study from 2017 to 2022. Cervical exfoliated cells were collected for methylation testing via qPCR. CDO1 methylation(CDO1m) is positive at ∆Ct≤8.4; CELF4 methylation(CELF4m) is positive at ∆Ct≤8.8. If either is positive, dual-gene methylation(CDO1m/CELF4m) is positive. Concurrently, clinical data, relevant biomarkers and endometrial thickness(ET) from transvaginal ultrasound were also recorded. Risk factors of EC were determined via univariate analysis. Clinical profiles were compared statistically by ethnicity. The accuracy of methylation testing, CA125 levels and ET measurements in postmenopausal women was assessed using receiver operating characteristic curves.

Results Univariate analysis revealed significant differences between EC and controls in body mass index (BMI)(p=0.004), abnormal uterine bleeding(p=0.009), ET(p<0.001), CA125(p<0.001), CDO1m(p<0.001), CELF4m(p<0.001) and CDO1m/CELF4m(p<0.001). Spanish and Chinese EC patients significantly differed in age(p<0.001), EC types(p<0.001), BMI(p<0.001), ET(p=0.002), CDO1m(p=0.003) and CELF4m(p=0.001) but not in CA125(p=0.994) and CDO1m/CELF4m(p=0.705). CDO1m/CELF4m testing showed no differences concerning ethnicity (p=0.857). The sensitivity and specificity of CDO1m/CELF4m was high in both Spanish(92.3% and 87.5%) and Chinese(81.3% and 86.7%). CDO1m/CELF4m also displayed analogous sensitivity in Type I EC(84.3% in Spanish and 82.3% in Chinese) but not in Type II(83.3% and 71.4%). CDO1m/CELF4m exhibited the largest accuracy in both Spanish and Chinese(0.899 and 0.840), compared with CA125(0.654 and 0.617), CDO1m(0.861 and 0.837) and CELF4m(0.769 and 0.793).

Conclusion DNA methylation of CDO1 and CELF4 is accurate to diagnose EC in both Chinese and Spanish postmenopausal populations.

Disclosures Special Thanks to NIM Genetics team in Madrid that contributed in this project

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