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Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and
Elena Fountzilas1,2, Theofanis Papadopoulos3, Eirini Papadopoulou4
1Department of Medical Oncology, St. Lukes's Clinic, 55236 Thessaloniki, Greece.
Diagnostics (Basel, Switzerland)
|June 19, 2024
Summary
Microsatellite instability (MSI) and mismatch repair (MMR) testing in cancer patients in Greece revealed varying prevalence of MSI-high/deficient MMR across tumor types. Testing increased over time, with high concordance between MSI and MMR status.
Area of Science:
- Oncology
- Molecular Diagnostics
- Cancer Genomics
Background:
- Microsatellite instability (MSI) and mismatch repair (MMR) status are critical biomarkers in oncology.
- Accurate determination of MSI/MMR status has significant clinical implications for cancer treatment and prognosis.
Purpose of the Study:
- To assess the prevalence of MSI-high (MSI-H)/deficient MMR (dMMR) across various cancer types in Greece.
- To analyze trends in MSI/MMR testing patterns over time.
- To evaluate the concordance between MSI and MMR testing results.
Main Methods:
- Retrospective analysis of MSI/MMR testing data from 18 laboratories across Greece.
- Inclusion of 7916 tumor samples from diverse cancer types.
- Paired analysis of MSI and MMR status for 904 samples.
Main Results:
- MSI/MMR testing significantly increased over time for colorectal cancer (CRC) and other tumor types (p < 0.05).
- The highest prevalence of MSI-H/dMMR was observed in endometrial cancer (20.9%).
- An overall discordance rate of 2.3% was found between MSI and MMR testing in paired samples.
Conclusions:
- MSI-H/dMMR is present in most tumor types, albeit at varying frequencies.
- Increasing referral patterns for MSI/MMR testing from medical oncologists were observed.
- High concordance between MSI and MMR status was confirmed, supporting the reliability of both testing methods.
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