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

By J. Shia. Journal of Molecular Diagnostics, 2008

665 citations recorded by the source corpus.

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.

Subfields: Cancer Research, Oncology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/2258056e272ccd551c72bc2b2214d006113712d0

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

1. L. Diaz
2. Bert Vogelstein
3. Kenneth W. Kinzler
4. C. Tomasetti
5. A. Bardelli
6. Benjamin L. Ebert
7. Siddhartha Jaiswal
8. Lawrence Loeb

In Oncology

1. Bert Vogelstein
2. Kenneth W. Kinzler
3. M. López-Lázaro

In Pathology and Forensic Medicine

1. L. Diaz
2. Kenneth W. Kinzler
3. Bert Vogelstein
4. A. Bardelli
5. Benjamin L. Ebert
6. Siddhartha Jaiswal

Citations in the corpus

• Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer (2016, methodology): “MMR status was assessed by immunohistochemistry for MLH1, MSH2, MSH6, and PMS2 proteins using standard protocols (38).”
• ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. (2019, background): “Aberrant staining patterns may also be observed, including cytoplasmic, dot-like or perinuclear staining [50].”