Non-invasive detection of endometrial cancer by DNA methylation analysis in urine

Clinical Epigenetics

Jenneke C. Kasius¹  Constantijne H. Mom¹  Renske D. M. Steenbergen²  Birgit M. M. Wever²  Annina P. van Splunter²  Maaike C. G. Bleeker²  Rianne van den Helder³  Nienke E. van Trommel⁴ 

[1] Amsterdam UMC, University of Amsterdam, Center of Gynecologic Oncology Amsterdam, Department of Gynecologic Oncology, Cancer Center Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands;Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Pathology, Cancer Center Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands;Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Pathology, Cancer Center Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands;Antoni van Leeuwenhoek/Netherlands Cancer Institute, Center of Gynecologic Oncology Amsterdam, Department of Gynecologic Oncology, Amsterdam, The Netherlands;Antoni van Leeuwenhoek/Netherlands Cancer Institute, Center of Gynecologic Oncology Amsterdam, Department of Gynecologic Oncology, Amsterdam, The Netherlands;

关键词: Endometrial cancer;    Cancer detection;    Biomarkers;    DNA methylation;    Urine;    Non-invasive;    Liquid biopsy;   

DOI  :  10.1186/s13148-020-00958-7

来源: Springer

【 摘 要 】

BackgroundThe incidence of endometrial cancer is rising, and current diagnostics often require invasive biopsy procedures. Urine may offer an alternative sample type, which is easily accessible and allows repetitive self-sampling at home. Here, we set out to investigate the feasibility of endometrial cancer detection in urine using DNA methylation analysis.ResultsUrine samples of endometrial cancer patients (n = 42) and healthy controls (n = 46) were separated into three fractions (full void urine, urine sediment, and urine supernatant) and tested for three DNA methylation markers (GHSR, SST, ZIC1). Strong to very strong correlations (r = 0.77–0.92) were found amongst the different urine fractions. All DNA methylation markers showed increased methylation levels in patients as compared to controls, in all urine fractions. The highest diagnostic potential for endometrial cancer detection in urine was found in full void urine, with area under the receiver operating characteristic curve values ranging from 0.86 to 0.95.ConclusionsThis feasibility study demonstrates, for the first time, that DNA methylation analysis in urine could provide a non-invasive alternative for the detection of endometrial cancer. Further investigation is warranted to validate its clinical usefulness. Potential applications of this diagnostic approach include the screening of asymptomatic women, triaging women with postmenopausal bleeding symptoms, and monitoring women with increased endometrial cancer risk.

【 授权许可】

CC BY