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Diagnostics
Volume 16
Issue 1
10.3390/diagnostics16010100
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Article

Microsatellite Instability Status and Mismatch Repair Defects Testing in Endometrial Cancer—Insights from the Multicenter E-PEC Trial

by
Büsra Eser
1,*,
David Papior
1,
Jon Salmanton-García
2,3,4,5,
Oliver A. Cornely
2,3,4,5,6,
Bernd Morgenstern
7,
Clarissa Herpel
7,
Julia C. Radosa
8,
Anas Almuheimid
8,
Bahriye Aktas
9,10,
Laura Weydandt
9,10,
Julia Wittenborn
11,
Philipp Meyer-Wilmes
11,
Verena Friebe
12,
Christiane Leidinger
12,
Rainer Kimmig
1 and
Fabinshy Thangarajah
1
1
Department of Gynecology and Obstetrics, Medical Faculty of the University of Duisburg-Essen, University Hospital of Essen, 45147 Essen, Germany
2
Institute of Translational Research, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany
3
Clinical Trials Centre Cologne (ZKS Köln), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany
4
Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), University of Cologne, 50931 Cologne, Germany
5
Department I of Internal Medicine, European Confederation for Medical Mycology (ECMM) Excellence Center, University of Cologne, 50931 Cologne, Germany
6
German Centre for Infection Research (DZIF), Partner Site Bonn-Cologne, 50931 Cologne, Germany
7
Department of Gynecology and Gynecologic Oncology, Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Düsseldorf), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany
8
Department of Gynecology and Obstetrics, University Hospital of Homburg, 66424 Homburg, Germany
9
Department of Gynecology, University Hospital of Leipzig, 04103 Leipzig, Germany
10
Comprehensive Cancer Center Central Germany, Partner Site Leipzig, 04103 Leipzig, Germany
11
Department of Obstetrics and Gynecology, Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Düsseldorf), University Hospital of RWTH Aachen, 52074 Aachen, Germany
12
Department of Gynecology and Obstetrics, University Hospital of Düsseldorf, 40225 Düsseldorf, Germany
 
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*
Author to whom correspondence should be addressed.
Diagnostics 2026, 16(1), 100; https://doi.org/10.3390/diagnostics16010100 (registering DOI)
Submission received: 29 November 2025 / Revised: 21 December 2025 / Accepted: 22 December 2025 / Published: 27 December 2025
(This article belongs to the Special Issue Advances in Diagnosis and Management of Endometrial Diseases)
Versions Notes

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.
Keywords: endometrial cancer; microsatellite instability; mismatch repair-testing; molecular characterization; immune checkpoint inhibition endometrial cancer; microsatellite instability; mismatch repair-testing; molecular characterization; immune checkpoint inhibition

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MDPI and ACS Style

Eser, B.; Papior, D.; Salmanton-García, J.; Cornely, O.A.; Morgenstern, B.; Herpel, C.; Radosa, J.C.; Almuheimid, A.; Aktas, B.; Weydandt, L.; et al. Microsatellite Instability Status and Mismatch Repair Defects Testing in Endometrial Cancer—Insights from the Multicenter E-PEC Trial. Diagnostics 2026, 16, 100. https://doi.org/10.3390/diagnostics16010100

AMA Style

Eser B, Papior D, Salmanton-García J, Cornely OA, Morgenstern B, Herpel C, Radosa JC, Almuheimid A, Aktas B, Weydandt L, et al. Microsatellite Instability Status and Mismatch Repair Defects Testing in Endometrial Cancer—Insights from the Multicenter E-PEC Trial. Diagnostics. 2026; 16(1):100. https://doi.org/10.3390/diagnostics16010100

Chicago/Turabian Style

Eser, Büsra, David Papior, Jon Salmanton-García, Oliver A. Cornely, Bernd Morgenstern, Clarissa Herpel, Julia C. Radosa, Anas Almuheimid, Bahriye Aktas, Laura Weydandt, and et al. 2026. "Microsatellite Instability Status and Mismatch Repair Defects Testing in Endometrial Cancer—Insights from the Multicenter E-PEC Trial" Diagnostics 16, no. 1: 100. https://doi.org/10.3390/diagnostics16010100

APA Style

Eser, B., Papior, D., Salmanton-García, J., Cornely, O. A., Morgenstern, B., Herpel, C., Radosa, J. C., Almuheimid, A., Aktas, B., Weydandt, L., Wittenborn, J., Meyer-Wilmes, P., Friebe, V., Leidinger, C., Kimmig, R., & Thangarajah, F. (2026). Microsatellite Instability Status and Mismatch Repair Defects Testing in Endometrial Cancer—Insights from the Multicenter E-PEC Trial. Diagnostics, 16(1), 100. https://doi.org/10.3390/diagnostics16010100

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