Microsatellite Instability Status and Mismatch Repair Defects Testing in Endometrial Cancer—Insights from the Multicenter E-PEC Trial
Diagnostics, vol. 16, pp. 100
Abstract
Background: Mismatch repair (MMR) and microsatellite instability (MSI) testing have become essential biomarkers in the molecular classification of endometrial cancer (EC), guiding adjuvant treatment decisions and eligibility for immune checkpoint inhibition. Although international guidelines recommend universal testing, real-world implementation remains heterogeneous. This study aimed to evaluate trends in MMR and MSI testing and associated molecular diagnostics in Germany between 2018 and 2022. Methods: A retrospective multicenter analysis was conducted across German tertiary care centers. Data from patients with histologically confirmed EC between 2018 and 2022 were extracted from standardized electronic pathology records. Annual testing rates for MSI, MMR, POLE, TP53, and L1CAM were analyzed using descriptive statistics and trend analysis (Chi-square test for trend, p < 0.05). Therapeutic data were collected to assess the use of immune checkpoint inhibitors. Results: There was a significant increase in the annual rates of molecular testing for MSI, POLE, TP53, and L1CAM over the five-year observation period (all p < 0.05). TP53 testing showed the highest increase (13.1% → 78.6%), while MSI testing rose from 82.9% to 97.4%. Both POLE and L1CAM testing were virtually absent in 2018 (0% and 1.6%) but reached 15.7% by 2022. Conclusions: This study demonstrates a rapid and substantial implementation of MMR and MSI testing in German clinical practice, reflecting successful translation of trial results into routine care. However, implementation of testing in guidelines appeared time-shifted. For bridging this gap, annual guideline updates seem to be necessary.
Authors 16
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Büsra Eser corresponding
Essen University Hospital · University of Duisburg-Essen
Affiliation as printed
Department of Gynecology and Obstetrics, Medical Faculty, University Hospital of Essen, University of Duisburg-Essen, 45147 Essen, Germany
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Essen University Hospital · University of Duisburg-Essen
Affiliation as printed
Department of Gynecology and Obstetrics, Medical Faculty, University Hospital of Essen, University of Duisburg-Essen, 45147 Essen, Germany
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University of Cologne · Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases · University Hospital Cologne
Affiliation as printed
Clinical Trials Centre Cologne (ZKS Köln), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany
Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), University of Cologne, 50931 Cologne, Germany
Department I of Internal Medicine, European Confederation for Medical Mycology (ECMM) Excellence Center, University of Cologne, 50931 Cologne, Germany
Institute of Translational Research, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany
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University of Cologne · German Center for Infection Research · Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases · University Hospital Cologne
Affiliation as printed
Clinical Trials Centre Cologne (ZKS Köln), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany
Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), University of Cologne, 50931 Cologne, Germany
Department I of Internal Medicine, European Confederation for Medical Mycology (ECMM) Excellence Center, University of Cologne, 50931 Cologne, Germany
German Centre for Infection Research (DZIF), Partner Site Bonn-Cologne, 50931 Cologne, Germany
Institute of Translational Research, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany
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University of Cologne · University Hospital Cologne
Affiliation as printed
Department of Gynecology and Gynecologic Oncology, Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Düsseldorf), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany
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University of Cologne · University Hospital Cologne
Affiliation as printed
Department of Gynecology and Gynecologic Oncology, Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Düsseldorf), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany
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Affiliation as printed
Department of Gynecology and Obstetrics, University Hospital of Homburg, 66424 Homburg, Germany
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Affiliation as printed
Department of Gynecology and Obstetrics, University Hospital of Homburg, 66424 Homburg, Germany
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Affiliation as printed
Comprehensive Cancer Center Central Germany, Partner Site Leipzig, 04103 Leipzig, Germany
Department of Gynecology, University Hospital of Leipzig, 04103 Leipzig, Germany
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Affiliation as printed
Comprehensive Cancer Center Central Germany, Partner Site Leipzig, 04103 Leipzig, Germany
Department of Gynecology, University Hospital of Leipzig, 04103 Leipzig, Germany
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Julia Wittenborn Aachen Department of Obstetrics and Gynecology Center for Integrated Oncology (CIO Aachen
Universitätsklinikum Aachen · RWTH Aachen University
Affiliation as printed
Department of Obstetrics and Gynecology, Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Düsseldorf), University Hospital of RWTH Aachen, 52074 Aachen, Germany
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Philipp Meyer-Wilmes Aachen Department of Obstetrics and Gynecology Center for Integrated Oncology (CIO Aachen
Universitätsklinikum Aachen · RWTH Aachen University
Affiliation as printed
Department of Obstetrics and Gynecology, Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Düsseldorf), University Hospital of RWTH Aachen, 52074 Aachen, Germany
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Düsseldorf University Hospital
Affiliation as printed
Department of Gynecology and Obstetrics, University Hospital of Düsseldorf, 40225 Düsseldorf, Germany
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Düsseldorf University Hospital
Affiliation as printed
Department of Gynecology and Obstetrics, University Hospital of Düsseldorf, 40225 Düsseldorf, Germany
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Essen University Hospital · University of Duisburg-Essen
Affiliation as printed
Department of Gynecology and Obstetrics, Medical Faculty, University Hospital of Essen, University of Duisburg-Essen, 45147 Essen, Germany
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Essen University Hospital · University of Duisburg-Essen
Affiliation as printed
Department of Gynecology and Obstetrics, Medical Faculty, University Hospital of Essen, University of Duisburg-Essen, 45147 Essen, Germany
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