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Background  Endometrial cancer is a common gynecologic cancer. Noninvasive molecular biomarkers for triage of high-risk patients for invasive procedures are needed. Based on the success of cytological Pap smear screening, cervical scrapings are a good source of DNA for molecular testing. In addition to genetic lesions, DNA methylation is a promising biomarker. We assessed the usefulness of combining genetic and epigenetic biomarkers from cervical scrapings to detect endometrial carcinomas.    Methods  We performed a retrospective case–control study of 96 consecutive cervical scrapings from patients with abnormal uterine bleeding who underwent surgery for diagnostic evaluation. Thirty and 16 cases were diagnosed with type I and type II endometrial cancers, respectively. The remaining non-cancer cases included normal endometrium ( n  = 12), benign uterine lesions ( n  = 20), and endometrial hyperplasia (n = 18). Quantitative methylation-specific PCR and mass spectrometry were used for DNA methylation and genetic mutation analysis. Logistic regression was used to evaluate the clinical performance of these candidate biomarkers.    Results  We tested the effectiveness of the methylation status of four genes ( BHLHE22 ,  CDO1 ,  TBX5 , and  HAND2 ) in endometrial cancer detection. The area under the receiver operating characteristic curves ranged from 0.703 to 0.878, and panels of hypermethylated  BHLHE22 / CDO1 / HAND2  (87.0% sensitivity and 86.0% specificity) and  BHLHE22 / CDO1 / TBX5  (89.1% sensitivity and 80.0% specificity) showed significant differences and could distinguish benign from malignant endometrial lesions. The sensitivity and specificity in endometrial cancer detection for  BHLHE22 / CDO1  were 84.8% and 88.0%, respectively. Both type I and II endometrial carcinomas could be detected using a  BHLHE22 / CDO1 -based methylation profile, suggesting that they may have common epigenomes. Moreover,  PTEN  and  TP53  mutations were found in 63.3% of type I and 93.6% of type II endometrial cancers. Unexpectedly,  PTEN  and  TP53  mutations were commonly found in cervical scrapings of the normal endometrium (25% and 33.3%, respectively) and in cases with benign uterine lesions (10% and 50%, respectively). Finally, combinations of any one mutation of  PTEN  and  TP53  mutations had a sensitivity of 91.3%, but a specificity of only 42.0%.    Conclusions  Adding  PTEN / TP53  mutation testing to  BHLHE22 / CDO1 -based methylation testing did not improve the detection of endometrial cancer.

Combined genetic mutations and DNA-methylated genes as biomarkers for endometrial cancer detection from cervical scrapings