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. 2024 May 22;14(11):1076.
doi: 10.3390/diagnostics14111076.

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

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 , Zacharenia Saridaki  22   23
Affiliations

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

Elena Fountzilas et al. Diagnostics (Basel). .

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: Greece; MMR; MSI; biomarker; immunotherapy; nationwide; real-world data.

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Conflict of interest statement

EF declares speaker fees from Roche, AstraZeneca, GSK, Amgen and Pfizer, travel grants from AstraZeneca and Genesis, participation on advisory board of Amgen and stock ownership in Deciphera Pharmaceuticals, Inc. and Genprex. GF declares honoraria from AstraZeneca and Novartis, participation on advisory board of Pfizer and Novartis and stock ownership in Genprex, Daiichi Sankyo, RFL Holdings and FORMYCON. TP, GT are KARYO employees; EP, GN are Genekor M.S.A. employees; CG, SM are BioPath Innovations S.A. employees; PC, GC are Genotypos Science Labs M.S.A. employees; DH, EMM are microDiagnostics LP employees; EE is Istodierevnitiki S.A. employee.

Figures

Figure 1
Figure 1
Consort diagram.
Figure 2
Figure 2
MSI/MMR testing over time.
See this image and copyright information in PMC

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