Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: Part I. The utility of immunohistochemistry Journal Article


Author: Shia, J.
Article Title: Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: Part I. The utility of immunohistochemistry
Abstract: The utility of immunohistochemical detection of DNA mismatch repair (MMR) protein in screening colorectal tumors for hereditary nonpolyposis colorectal cancer (HNPCC) syndrome has been the focus of much intensive research over the last 10 years. Particular attention has been given to the relative usefulness of immunohistochemistry (IHC) versus testing of tumor microsatellite instability (MSI). Earlier work that focused on mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2) has created a false impression that IHC has a lower sensitivity than MSI testing in predicting germline mutation. More recent studies that included postmeiotic segregation increased 2 (PMS2) and MSH6, on the other hand, have demonstrated an IHC predictive value that is virtually equivalent to that of MSI testing. Such added value of PMS2 and MSH6 can be explained by the biological and biochemical properties of the MMR proteins. On the premise that IHC with PMS2 and MSH6 is as sensitive as MSI testing, given that IHC is easily available and generally inexpensive and, importantly, identifies the affected gene, it is reasonable to regard IHC as a more optimal first-line screening tool than MSI testing for identifying HNPCC. MSI testing can provide a fallback position in equivocal situations, while remaining an important research tool. However, for IHC to be used as a first-line screening test requires that both pathologists and clinicians be aware that IHC results may be construed as "genetic information," and that appropriate procedures should be established to ensure patient understanding and consent. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology.
Keywords: immunohistochemistry; protein expression; gene mutation; review; cancer risk; sensitivity and specificity; colorectal cancer; risk factors; cancer screening; mass screening; colorectal neoplasms; syndrome; microsatellite instability; intermethod comparison; sequence homology; protein msh2; protein msh6; colorectal neoplasms, hereditary nonpolyposis; mismatch repair protein pms2; protein mutl
Journal Title: Journal of Molecular Diagnostics
Volume: 10
Issue: 4
ISSN: 1525-1578
Publisher: Elsevier Science, Inc.  
Date Published: 2008-07-01
Start Page: 293
End Page: 300
Language: English
DOI: 10.2353/jmoldx.2008.080031
PUBMED: 18556767
PROVIDER: scopus
PMCID: PMC2438196
DOI/URL:
Notes: --- - "Cited By (since 1996): 60" - "Export Date: 17 November 2011" - "CODEN: JMDIF" - "Source: Scopus"
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  1. Jinru Shia
    720 Shia