Author:
Wlaszczuk Pawel,Kuzbinska Aleksandra,Dobrosz Zuzanna,Palen Piotr,Pawlicki Krzysztof
Abstract
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.
Reference29 articles.
1. Pathology of the hereditary colorectal carcinoma;Gatalica;Familial Cancer,2008
2. MSI testing and its role in the management of colorectal cancer;Kawakami;Curr Treat Options Oncol,2015
3. Microsatellite instability in the management of colorectal cancer;Pino;Expert Rev Gastroenterol Hepatol,2011
4. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines;Kane;Cancer Res,1997
5. Microsatellite instability in colorectal cancer: Clinicopathological significance;Setaffy;Pol J Pathol,2015
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