Microsatellite instability and somatic gene variant profile in solid organ tumors
Introduction Absence of mismatch repair (MMR) genes in tumor cells or errors in the replication repair process may lead to DNA-MMR deficiency and microsatellite instability (MSI) formation. Specific tumor environments where gene variations are observed are believed to be conducive to the formation o...
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-05-01
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| Series: | Archives of Medical Science |
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| Online Access: | https://www.archivesofmedicalscience.com/Microsatellite-instability-and-somatic-gene-variant-profile-in-solid-organ-tumors,185326,0,2.html |
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| author | Ibrahim Halil Erdogdu Seda Orenay-Boyacioglu Olcay Boyacioglu Nesibe Kahraman-Cetin Habibe Guler Merve Turan Ibrahim Meteoglu |
| author_facet | Ibrahim Halil Erdogdu Seda Orenay-Boyacioglu Olcay Boyacioglu Nesibe Kahraman-Cetin Habibe Guler Merve Turan Ibrahim Meteoglu |
| author_sort | Ibrahim Halil Erdogdu |
| collection | DOAJ |
| description | Introduction
Absence of mismatch repair (MMR) genes in tumor cells or errors in the replication repair process may lead to DNA-MMR deficiency and microsatellite instability (MSI) formation. Specific tumor environments where gene variations are observed are believed to be conducive to the formation of MSI. This study aimed to determine the MSI status, MMR protein expression, and somatic mutation profile in solid organ tumors.
Material and methods
In this study, the records of 192 patients with solid organ tumors who were referred to the Molecular Pathology Laboratory between January 2018 and December 2022 were reviewed retrospectively. The MSI profiles of the patients were evaluated using real-time polymerase chain reaction (PCR) and immunohistochemical (IHC) methods. Somatic variations in the patients were detected using an NGS colon cancer panel.
Results
In the IHC evaluation, 22 cases showed MMR-deficient (dMMR) or high MSI (MSI-H), and 170 cases showed MMR-proficient (pMMR) or microsatellite stable (MSS). Real-time PCR results on the 22 dMMR cases revealed that 11 cases had MSI-H and 11 cases had MSS status. Among the 170 cases with pMMR, 160 cases were found to have MSS status, while 10 cases had low MSI (MSI-L). NGS analysis revealed that the three most frequent pathogenic variants in all cases were BLM exon 7 c.1544delA, MSH3 exon 7 c.1148delA, and MLH3 exon 2 c.1755delA. MSI-H cancer patients had a higher variation burden compared to MSS cancer patients. The most frequently observed pathogenic variant in both MSI-H and MSS cancer patients was BLM exon 7 c.1544delA.
Conclusions
Our study covers not only colorectal cancer patients but also other solid tumor types, providing the first data from the Turkish population on the MSI-H/dMMR status and somatic mutation profile in the presence of this condition. |
| format | Article |
| id | doaj-art-cca86dbf1d664ee68af2ee3bee478e3d |
| institution | Kabale University |
| issn | 1734-1922 1896-9151 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Archives of Medical Science |
| spelling | doaj-art-cca86dbf1d664ee68af2ee3bee478e3d2025-01-27T10:44:31ZengTermedia Publishing HouseArchives of Medical Science1734-19221896-91512024-05-012051672167910.5114/aoms/185326185326Microsatellite instability and somatic gene variant profile in solid organ tumorsIbrahim Halil Erdogdu0Seda Orenay-Boyacioglu1https://orcid.org/0000-0003-1651-1940Olcay Boyacioglu2Nesibe Kahraman-Cetin3Habibe Guler4Merve Turan5Ibrahim Meteoglu6Department of Molecular Pathology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, TurkeyDepartment of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, TurkeyDepartment of Cancer Biology, Faculty of Medicine, Wake Forest University, Winston-Salem, NC, USADepartment of Molecular Pathology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, TurkeyDepartment of Molecular Pathology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, TurkeyDepartment of Oncology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, TurkeyDepartment of Molecular Pathology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, TurkeyIntroduction Absence of mismatch repair (MMR) genes in tumor cells or errors in the replication repair process may lead to DNA-MMR deficiency and microsatellite instability (MSI) formation. Specific tumor environments where gene variations are observed are believed to be conducive to the formation of MSI. This study aimed to determine the MSI status, MMR protein expression, and somatic mutation profile in solid organ tumors. Material and methods In this study, the records of 192 patients with solid organ tumors who were referred to the Molecular Pathology Laboratory between January 2018 and December 2022 were reviewed retrospectively. The MSI profiles of the patients were evaluated using real-time polymerase chain reaction (PCR) and immunohistochemical (IHC) methods. Somatic variations in the patients were detected using an NGS colon cancer panel. Results In the IHC evaluation, 22 cases showed MMR-deficient (dMMR) or high MSI (MSI-H), and 170 cases showed MMR-proficient (pMMR) or microsatellite stable (MSS). Real-time PCR results on the 22 dMMR cases revealed that 11 cases had MSI-H and 11 cases had MSS status. Among the 170 cases with pMMR, 160 cases were found to have MSS status, while 10 cases had low MSI (MSI-L). NGS analysis revealed that the three most frequent pathogenic variants in all cases were BLM exon 7 c.1544delA, MSH3 exon 7 c.1148delA, and MLH3 exon 2 c.1755delA. MSI-H cancer patients had a higher variation burden compared to MSS cancer patients. The most frequently observed pathogenic variant in both MSI-H and MSS cancer patients was BLM exon 7 c.1544delA. Conclusions Our study covers not only colorectal cancer patients but also other solid tumor types, providing the first data from the Turkish population on the MSI-H/dMMR status and somatic mutation profile in the presence of this condition.https://www.archivesofmedicalscience.com/Microsatellite-instability-and-somatic-gene-variant-profile-in-solid-organ-tumors,185326,0,2.htmlsolid organ tumorsmicrosatellite instabilitymultiple real-time polymerase chain reactionimmunohistochemicalngs |
| spellingShingle | Ibrahim Halil Erdogdu Seda Orenay-Boyacioglu Olcay Boyacioglu Nesibe Kahraman-Cetin Habibe Guler Merve Turan Ibrahim Meteoglu Microsatellite instability and somatic gene variant profile in solid organ tumors Archives of Medical Science solid organ tumors microsatellite instability multiple real-time polymerase chain reaction immunohistochemical ngs |
| title | Microsatellite instability and somatic gene variant profile in solid organ tumors |
| title_full | Microsatellite instability and somatic gene variant profile in solid organ tumors |
| title_fullStr | Microsatellite instability and somatic gene variant profile in solid organ tumors |
| title_full_unstemmed | Microsatellite instability and somatic gene variant profile in solid organ tumors |
| title_short | Microsatellite instability and somatic gene variant profile in solid organ tumors |
| title_sort | microsatellite instability and somatic gene variant profile in solid organ tumors |
| topic | solid organ tumors microsatellite instability multiple real-time polymerase chain reaction immunohistochemical ngs |
| url | https://www.archivesofmedicalscience.com/Microsatellite-instability-and-somatic-gene-variant-profile-in-solid-organ-tumors,185326,0,2.html |
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