PMID- 36625073 OWN - NLM STAT- MEDLINE DCOM- 20230202 LR - 20230402 IS - 1582-4934 (Electronic) IS - 1582-1838 (Print) IS - 1582-1838 (Linking) VI - 27 IP - 3 DP - 2023 Feb TI - Fluorescence in situ hybridization test for detection of endometrial carcinoma cells by non-invasive vaginal swab. PG - 379-391 LID - 10.1111/jcmm.17658 [doi] AB - Endometrial cancer (EC) is the most common gynaecological malignancy with increasing incidence in developed countries. As gold standard, hysteroscopy confirms only 30% of suspected ECs. The detection of EC cells in the vagina by fluorescence in situ hybridization (FISH) after a smear test could reduce invasive procedures in the future. Using array-based comparative genome hybridization (aCGH) on 65 endometrial carcinomas, most frequently imbalanced regions of the tumour genome were identified. Bacterial artificial chromosomes were used to generate FISH-probes homologue to these human regions. The FISH test was hybridized on swabs specimens collected from the vaginal cavity. Samples from six patients without EC were selected as a negative control and on 13 patients with known EC as a positive control. To distinguish between benign and EC cases, the cut-off value has been defined. A first validation of this EC-FISH Test was performed with swabs from 41 patients with suspected EC. The most common genomic imbalances in EC are around the CTNNB1, FBXW7 and APC genes. The cut-off is defined at 32% of analysed cells without diploid signal pattern. This differs significantly between the positive and negative controls (p < 0.001). In a first validation cohort of 41 patients with suspected EC, the EC-FISH Test distinguishes patients with and without EC with a sensitivity of 91% and a specificity of 83%. The negative predictive value is 96%. This is the first report of a non-invasive EC-FISH Test to predict EC in women with suspected EC. CI - (c) 2023 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. FAU - Weimer, Jorg AU - Weimer J AUID- ORCID: 0000-0002-4528-8509 AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Huttmann, Martje AU - Huttmann M AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Nusilati, Asiyan AU - Nusilati A AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Andreas, Svenja AU - Andreas S AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Roseler, Jona AU - Roseler J AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Tribian, Nils AU - Tribian N AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Rogmans, Christoph AU - Rogmans C AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Stope, Matthias Bernhard AU - Stope MB AD - Department of Gynecology and Gynecological Oncology, University Hospital Bonn, Bonn, Germany. FAU - Dahl, Edgar AU - Dahl E AD - Institute of Pathology, Medical Faculty of RWTH Aachen University, Aachen, Germany. FAU - Mustea, Alexander AU - Mustea A AD - Department of Gynecology and Gynecological Oncology, University Hospital Bonn, Bonn, Germany. FAU - Stickeler, Elmar AU - Stickeler E AD - Department of Gynecology, University Medical Center RWTH Aachen, Aachen, Germany. FAU - Hedemann, Nina AU - Hedemann N AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Florkemeier, Inken AU - Florkemeier I AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Tiemann, Katharina AU - Tiemann K AD - Institute for Hematopathology, Hamburg, Germany. FAU - Magadeeva, Svetlana AU - Magadeeva S AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Dempfle, Astrid AU - Dempfle A AD - Institute of Medical Informatics and Statistics, Kiel University and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Arnold, Norbert AU - Arnold N AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Maass, Nicolai AU - Maass N AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. FAU - Bauerschlag, Dirk AU - Bauerschlag D AD - Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein Campus Kiel, Kiel, Germany. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20230110 PL - England TA - J Cell Mol Med JT - Journal of cellular and molecular medicine JID - 101083777 SB - IM MH - Humans MH - Female MH - Sensitivity and Specificity MH - In Situ Hybridization, Fluorescence MH - *Endometrial Neoplasms/diagnosis/genetics/pathology MH - Predictive Value of Tests MH - Vagina PMC - PMC9889703 OTO - NOTNLM OT - FISH OT - endometrial-cancer OT - non-invasive OT - predictive-marker OT - vaginal-swap COIS- The authors declare that there is no conflict of interest. EDAT- 2023/01/11 06:00 MHDA- 2023/02/03 06:00 PMCR- 2023/01/10 CRDT- 2023/01/10 03:12 PHST- 2022/10/19 00:00 [revised] PHST- 2022/06/21 00:00 [received] PHST- 2022/12/10 00:00 [accepted] PHST- 2023/01/11 06:00 [pubmed] PHST- 2023/02/03 06:00 [medline] PHST- 2023/01/10 03:12 [entrez] PHST- 2023/01/10 00:00 [pmc-release] AID - JCMM17658 [pii] AID - 10.1111/jcmm.17658 [doi] PST - ppublish SO - J Cell Mol Med. 2023 Feb;27(3):379-391. doi: 10.1111/jcmm.17658. Epub 2023 Jan 10.