Evaluation of microsatellite instability in routine examinations of surgical samples
Context: Approximately 20%–30% of colon cancer cases have a hereditary basis. The genetic defect may involve mismatch repair (MMR) genes, which results in microsatellite instability (MSI). MMR-deficient colorectal cancer may occur due to germline mutation (Lynch syndrome) or be a sporadic one. A tum...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Indian Journal of Pathology and Microbiology |
| Subjects: | |
| Online Access: | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2022;volume=65;issue=1;spage=87;epage=92;aulast=Wlaszczuk |
| _version_ | 1819279769640894464 |
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| author | Pawel Wlaszczuk Aleksandra Kuzbinska Zuzanna Dobrosz Piotr Palen Krzysztof Pawlicki |
| author_facet | Pawel Wlaszczuk Aleksandra Kuzbinska Zuzanna Dobrosz Piotr Palen Krzysztof Pawlicki |
| author_sort | Pawel Wlaszczuk |
| collection | DOAJ |
| description | Context: Approximately 20%–30% of colon cancer cases have a hereditary basis. The genetic defect may involve mismatch repair (MMR) genes, which results in microsatellite instability (MSI). MMR-deficient colorectal cancer may occur due to germline mutation (Lynch syndrome) or be a sporadic one. A tumor's histological features, supported by a panel of immunohistochemistry stains, enables pathologists to assess the MMR status, which in turn has beneficial effects on clinical management. Aims: We aimed to show the relations between histopathological features identified during routine examinations and MMR genes' mutations. Methods and Material: We reviewed retrospectively the material of the Department of Pathology fulfilling the revised Bethesda Guidelines. Statistical Analysis Used: We used Chi-square test, Spearman test, and epidemiological analysis. Results: For the PMS2 gene, the positive predictive value (PPV) indicates that 91% of cases neither present any histological lesions nor have genetic abnormalities. The negative predictive value (NPV) indicates that only 50% of cases have both histological and genetic changes. For the MSH6 gene, the PPV indicates that 85% of tumors without specific histological features do not have genetic abnormalities. Conclusions: We advise universal staining for MLH1, MSH2, MSH6, and PMS2 in every newly diagnosed colon cancer, but due to costly analyses we suggest a protocol for the selection of cases for MMR examinations. |
| first_indexed | 2024-12-24T00:33:10Z |
| format | Article |
| id | doaj.art-52aa7eb1cfee42d0aafd5cf64b5b21f1 |
| institution | Directory Open Access Journal |
| issn | 0377-4929 |
| language | English |
| last_indexed | 2024-12-24T00:33:10Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj.art-52aa7eb1cfee42d0aafd5cf64b5b21f12022-12-21T17:24:11ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49292022-01-01651879210.4103/IJPM.IJPM_1398_20Evaluation of microsatellite instability in routine examinations of surgical samplesPawel WlaszczukAleksandra KuzbinskaZuzanna DobroszPiotr PalenKrzysztof PawlickiContext: Approximately 20%–30% of colon cancer cases have a hereditary basis. The genetic defect may involve mismatch repair (MMR) genes, which results in microsatellite instability (MSI). MMR-deficient colorectal cancer may occur due to germline mutation (Lynch syndrome) or be a sporadic one. A tumor's histological features, supported by a panel of immunohistochemistry stains, enables pathologists to assess the MMR status, which in turn has beneficial effects on clinical management. Aims: We aimed to show the relations between histopathological features identified during routine examinations and MMR genes' mutations. Methods and Material: We reviewed retrospectively the material of the Department of Pathology fulfilling the revised Bethesda Guidelines. Statistical Analysis Used: We used Chi-square test, Spearman test, and epidemiological analysis. Results: For the PMS2 gene, the positive predictive value (PPV) indicates that 91% of cases neither present any histological lesions nor have genetic abnormalities. The negative predictive value (NPV) indicates that only 50% of cases have both histological and genetic changes. For the MSH6 gene, the PPV indicates that 85% of tumors without specific histological features do not have genetic abnormalities. Conclusions: We advise universal staining for MLH1, MSH2, MSH6, and PMS2 in every newly diagnosed colon cancer, but due to costly analyses we suggest a protocol for the selection of cases for MMR examinations.http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2022;volume=65;issue=1;spage=87;epage=92;aulast=Wlaszczukcolorectal carcinoma (crc)lynch syndrome (ls)microsatellite instability (msi)mismatch repair (mmr) |
| spellingShingle | Pawel Wlaszczuk Aleksandra Kuzbinska Zuzanna Dobrosz Piotr Palen Krzysztof Pawlicki Evaluation of microsatellite instability in routine examinations of surgical samples Indian Journal of Pathology and Microbiology colorectal carcinoma (crc) lynch syndrome (ls) microsatellite instability (msi) mismatch repair (mmr) |
| title | Evaluation of microsatellite instability in routine examinations of surgical samples |
| title_full | Evaluation of microsatellite instability in routine examinations of surgical samples |
| title_fullStr | Evaluation of microsatellite instability in routine examinations of surgical samples |
| title_full_unstemmed | Evaluation of microsatellite instability in routine examinations of surgical samples |
| title_short | Evaluation of microsatellite instability in routine examinations of surgical samples |
| title_sort | evaluation of microsatellite instability in routine examinations of surgical samples |
| topic | colorectal carcinoma (crc) lynch syndrome (ls) microsatellite instability (msi) mismatch repair (mmr) |
| url | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2022;volume=65;issue=1;spage=87;epage=92;aulast=Wlaszczuk |
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