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A Simple Cervicovaginal Epigenetic Test for Screening and Rapid Triage of Women With Suspected Endometrial Cancer: Validation in Several Cohort and Case/Control Sets

C. Herzog, F. Marín, A. Jones, I. Evans, D. Reisel, E. Redl, L. Schreiberhuber, S. Paytubi, B. Pelegrina, Á. Carmona, P. Peremiquel-Trillas, J. Frias-Gomez, M. Pineda, J. Brunet, J. Ponce, X. Matias-Guiu, S. de Sanjosé, L. Alemany, A. Olaitan, M....

. 2022 ; 40 (33) : 3828-3838. [pub] 20220824

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc22032623

Grantová podpora
IS-BRC-1215-20007 Department of Health - United Kingdom

PURPOSE: Endometrial cancer (EC) incidence has been rising over the past 10 years. Delays in diagnosis reduce survival and necessitate more aggressive treatment. We aimed to develop and validate a simple, noninvasive, and reliable triage test for EC to reduce the number of invasive diagnostic procedures and improve patient survival. METHODS: We developed a test to screen and triage women with suspected EC using 726 cervical smear samples from women with and without EC, and validated the test in 562 cervicovaginal samples using three different collection methods (cervical smear: n = 248; vaginal swab: n = 63; and self-collection: n = 251) and four different settings (case/control: n = 388; cohort of women presenting with postmenopausal bleeding: n = 63; a cohort of high-risk women with Lynch syndrome: n = 25; and a nested case/control setting from a screening cohort and samples taken up to 3 years before EC diagnosis: n = 86). RESULTS: We describe the Women's cancer risk IDentification - quantitative polymerase chain reaction test for Endometrial Cancer (WID-qEC), a three-marker test that evaluates DNA methylation in gene regions of GYPC and ZSCAN12. In cervical, self-collected, and vaginal swab samples derived from symptomatic patients, it detected EC with sensitivities of 97.2% (95% CI, 90.2 to 99.7), 90.1% (83.6 to 94.6), and 100% (63.1 to 100), respectively, and specificities of 75.8% (63.6 to 85.5), 86.7% (79.3 to 92.2), and 89.1% (77.8 to 95.9), respectively. The WID-qEC identified 90.9% (95% CI, 70.8 to 98.9) of EC cases in samples predating diagnosis up to 1 year. Test performance was similar across menopausal status, age, stage, grade, ethnicity, and histology. CONCLUSION: The WID-qEC is a noninvasive reliable test for triage of women with symptoms suggestive of ECs. Because of the potential for self-collection, it could improve early diagnosis and reduce the reliance for in-person visits.

Cancer Epidemiology Research Programme Catalan Institute of Oncology IDIBELL L'Hospitalet de Llobregat Barcelona Spain

Consortium for Biomedical Research in Cancer CIBERONC Carlos 3 Institute of Health Madrid Spain

Consortium for Biomedical Research in Epidemiology and Public Health CIBERESP Carlos 3 Institute of Health Madrid Spain

Department of Clinical Science Center for Cancer Biomarkers CCBIO University of Bergen Bergen Norway

Department of Gynecology and Obstetrics Charles University Prague 1st Faculty of Medicine and Bulovka University Hospital Czech Republic

Department of Gynecology Hospital Universitari de Bellvitge IDIBELL Hospitalet de Llobregat Barcelona Spain

Department of Obstetrics and Gynaecology Haukeland University Hospital Bergen Norway

Department of Obstetrics and Gynaecology Manchester Academic Health Science Center St Mary's Hospital Manchester University NHS Foundation Trust Manchester United Kingdom

Department of Obstetrics and Gynecology 1st Faculty of Medicine Gynaecologic Oncology Center Charles University Prague General University Hospital Prague Prague Czech Republic

Department of Pathology Hospital Universitari de Bellvitge IDIBELL Hospitalet de Llobregat Barcelona Spain

Department of Women's and Children's Health Karolinska Institutet Stockholm Sweden

Department of Women's Cancer University College London London United Kingdom

Division of Pathology Department of Laboratory Medicine Karolinska Institutet Stockholm Sweden

European Translational Oncology Prevention and Screening Institute Universität Innsbruck Innsbruck Austria

Gynaecological Oncology Research Group Division of Cancer Sciences University of Manchester Manchester United Kingdom

Hereditary Cancer Group Catalan Institute of Oncology IDIBELL ONCOBELL Program L'Hospitalet Barcelona Spain

Hereditary Cancer Group Catalan Institute of Oncology IDIBGI Girona Spain

Institute for Biomedical Aging Research Universität Innsbruck Innsbruck Austria

ISGlobal Barcelona Spain

University College Hospital London United Kingdom

Citace poskytuje Crossref.org

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