PERFORMANCE OF DNA METHYLATION ANALYSIS IN URINE, CERVICOVAGINAL SELF-SAMPLES AND CERVICAL SCRAPES FOR ENDOMETRIAL CANCER DETECTION

Introduction/Background* Urine may offer an alternative sample type for gynecologic cancer detection1, which is easily accessible and allows self-sampling at home. DNA methylation is an emerging biomarker for early cancer detection, and the feasibility of endometrial cancer detection in urine using DNA methylation analysis has recently been reported2. This study aimed to determine the performance of DNA methylation analysis in urine for endometrial cancer detection, and to make a comparison to paired cervicovaginal self-samples and cervical scrapes. Methodology From 110 women diagnosed with endometrial cancer, paired urine samples, cervicovaginal self-samples and cervical scrapes were collected as well as samples from age-matched healthy female controls. All samples were tested for six DNA methylation markers. Differences in DNA methylation levels between patients and controls were compared using the non-parametric Mann-Whitney U-test, and the performance was quantified by the area under the receiver operating characteristic (ROC) curve (AUCs) and logistic regression. Correlation of DNA methylation markers within paired sample types was determined using the Spearman correlation coefficients. Result(s)* In urine, self-samples and cervical scrapes, all six DNA methylation markers showed increased methylation levels in patients as compared to controls. Analyses amongst the paired sample types showed a good correlation between the test results of the DNA methylation markers. Conclusion* This study demonstrates that testing for DNA methylation markers in urine may provide an easy and accurate alternative method for the detection of endometrial cancer. 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.