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Communication

Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns

by
Elena Fountzilas
1,2,*,
Theofanis Papadopoulos
3,
Eirini Papadopoulou
4,
Cedric Gouedard
5,
Helen P. Kourea
6,
Pantelis Constantoulakis
7,
Christina Magkou
8,
Maria Sfakianaki
9,
Vassiliki Kotoula
10,11,
Dimitra Bantouna
6,
Georgia Raptou
10,
Angelica A. Saetta
12,
Georgia Christopoulou
7,
Dimitris Hatzibougias
13,
Electra Michalopoulou-Manoloutsiou
13,
Eleni Siatra
14,
Eleftherios Eleftheriadis
15,
Evangelia Kavoura
16,
Loukas Kaklamanis
17,
Antigoni Sourla
18,
George Papaxoinis
19,
Kitty Pavlakis
16,
Prodromos Hytiroglou
10,
Christina Vourlakou
8,
Petroula Arapantoni-Dadioti
14,
Samuel Murray
5,
George Nasioulas
4,
Grigorios Timologos
3,
George Fountzilas
11,20,21 and
Zacharenia Saridaki
22,23add Show full author list remove Hide full author list
1
Department of Medical Oncology, St. Lukes’s Clinic, 55236 Thessaloniki, Greece
2
Medical Oncology, European University Cyprus, 2404 Nicosia, Cyprus
3
Molecular Diagnostics Laboratory, KARYO Ltd., 54622 Thessaloniki, Greece
4
Genekor M.S.A., 15344 Athens, Greece
5
BioPath Innovations SA, 15124 Athens, Greece
6
Department of Pathology, University Hospital of Patras, 26504 Patras, Greece
7
Genotypos Science Labs M.S.A., 11525 Athens, Greece
8
Department of Pathology, Evangelismos Hospital, 10676 Athens, Greece
9
Laboratory of Translational Oncology, Medical School, University of Crete, 71410 Heraklion, Greece
10
Department of Pathology, School of Health Sciences, Faculty of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
11
Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research/Aristotle University of Thessaloniki, 54006 Thessaloniki, Greece
12
First Department of Pathology, Medical School, National and Kapodistrian University of Athens, Laiko General Hospital, 15772 Athens, Greece
13
microDiagnostics LP, Private Surgical & Molecular Pathology Laboratory, 54622 Thessaloniki, Greece
14
Department of Pathology, Henry Dunant Hospital, 11526 Athens, Greece
15
Istodierevnitiki S.A., 54622 Thessaloniki, Greece
16
Pathology Department, IASO Women’s Hospital, 15123 Athens, Greece
17
Pathology Department, Onassis Cardiac Surgery Center, 17674 Athens, Greece
18
Department of Pathology and Laboratory Medicine, Bioiatriki Laboratories, 11528 Athens, Greece
19
Second Department of Internal Medicine, Agios Savvas Cancer Hospital, 11522 Athens, Greece
20
Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
21
Department of Medical Oncology, German Oncology Center, 4108 Limassol, Cyprus
22
First Oncology Department, Metropolitan Hospital, 18547 Piraeus, Greece
23
Asklepios, Oncology Department, 71303 Heraklion, Greece
 
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Author to whom correspondence should be addressed.
Diagnostics 2024, 14(11), 1076; https://doi.org/10.3390/diagnostics14111076
Submission received: 29 April 2024 / Revised: 16 May 2024 / Accepted: 17 May 2024 / Published: 22 May 2024
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Abstract

Determination of microsatellite instability (MSI)/mismatch repair (MMR) status in cancer has several clinical implications. Our aim was to integrate MSI/MMR status from patients tested in Greece to assess the prevalence of MSI-high (MSI-H)/deficient MMR (dMMR) per tumor type, testing patterns over time and concordance between MSI and MMR status. We retrospectively recorded MSI/MMR testing data of patients with diverse tumor types performed in pathology and molecular diagnostics laboratories across Greece. Overall, 18 of 22 pathology and/or molecular diagnostics laboratories accepted our invitation to participate. In the 18 laboratories located across the country, 7916 tumor samples were evaluated for MSI/MMR status. MSI/MMR testing significantly increased in patients with colorectal cancer (CRC) and other tumor types overtime (p < 0.05). The highest prevalence was reported in endometrial cancer (47 of 225 patients, 20.9%). MSI-H/dMMR was observed in most tumor types, even in low proportions. Among 904 tumors assessed both for MSI and MMR status, 21 had discordant results (overall discordance rate, 2.3%). We reported MSI-H/dMMR prevalence rates in patients with diverse cancers, while demonstrating increasing referral patterns from medical oncologists in the country overtime. The anticipated high rate of concordance between MSI and MMR status in paired analysis was confirmed.
Keywords: biomarker; Greece; immunotherapy; MMR; MSI; nationwide; real-world data biomarker; Greece; immunotherapy; MMR; MSI; nationwide; real-world data

Share and Cite

MDPI and ACS Style

Fountzilas, E.; Papadopoulos, T.; Papadopoulou, E.; Gouedard, C.; Kourea, H.P.; Constantoulakis, P.; Magkou, C.; Sfakianaki, M.; Kotoula, V.; Bantouna, D.; et al. Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns. Diagnostics 2024, 14, 1076. https://doi.org/10.3390/diagnostics14111076

AMA Style

Fountzilas E, Papadopoulos T, Papadopoulou E, Gouedard C, Kourea HP, Constantoulakis P, Magkou C, Sfakianaki M, Kotoula V, Bantouna D, et al. Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns. Diagnostics. 2024; 14(11):1076. https://doi.org/10.3390/diagnostics14111076

Chicago/Turabian Style

Fountzilas, Elena, Theofanis Papadopoulos, Eirini Papadopoulou, Cedric Gouedard, Helen P. Kourea, Pantelis Constantoulakis, Christina Magkou, Maria Sfakianaki, Vassiliki Kotoula, Dimitra Bantouna, and et al. 2024. "Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns" Diagnostics 14, no. 11: 1076. https://doi.org/10.3390/diagnostics14111076

APA Style

Fountzilas, E., Papadopoulos, T., Papadopoulou, E., Gouedard, C., Kourea, H. P., Constantoulakis, P., Magkou, C., Sfakianaki, M., Kotoula, V., Bantouna, D., Raptou, G., Saetta, A. A., Christopoulou, G., Hatzibougias, D., Michalopoulou-Manoloutsiou, E., Siatra, E., Eleftheriadis, E., Kavoura, E., Kaklamanis, L., ... Saridaki, Z. (2024). Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns. Diagnostics, 14(11), 1076. https://doi.org/10.3390/diagnostics14111076

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