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Updated: Jun 5, 2025
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Microsatellite instability and somatic gene variant profile in solid organ tumors
Ibrahim Halil Erdogdu1, Seda Orenay-Boyacioglu2, Olcay Boyacioglu3,4
1Department of Molecular Pathology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, Turkey.
Archives of Medical Science : AMS
|December 9, 2024
Summary
DNA mismatch repair deficiency (dMMR) and microsatellite instability (MSI) are linked to specific gene variations in solid tumors. This study identified frequent pathogenic variants like BLM exon 7 c.1544delA in Turkish patients, offering new population data.
Area of Science:
- Oncology
- Molecular Pathology
- Genetics
Background:
- DNA mismatch repair (MMR) deficiency and microsatellite instability (MSI) are critical in cancer development.
- Tumor microenvironments with specific gene variations are associated with MSI formation.
Purpose of the Study:
- To determine the MSI status, MMR protein expression, and somatic mutation profile in solid organ tumors.
- To investigate the relationship between MSI status and somatic variations in a Turkish patient cohort.
Main Methods:
- Retrospective review of 192 solid organ tumor cases (Jan 2018-Dec 2022).
- MSI profiling using real-time PCR and immunohistochemistry (IHC).
- Somatic variation analysis using an NGS colon cancer panel.
Main Results:
- 22 cases were MMR-deficient (dMMR)/high MSI (MSI-H), and 170 were MMR-proficient (pMMR)/microsatellite stable (MSS).
- Frequent pathogenic variants included BLM exon 7 c.1544delA, MSH3 exon 7 c.1148delA, and MLH3 exon 2 c.1755delA.
- MSI-H patients exhibited a higher variation burden; BLM exon 7 c.1544delA was the most common variant in both MSI-H and MSS patients.
Conclusions:
- This study provides the first data on MSI-H/dMMR status and somatic mutation profiles in various solid tumors from the Turkish population.
- Identified common pathogenic variants like BLM exon 7 c.1544delA, offering insights into tumor genetics.
