Quality Assessment and Correlation of Microsatellite Instability and Immunohistochemical Markers among Population- and Clinic-Based Colorectal Tumors: Results from the Colon Cancer Family Registry

摘要: The detection of defective mismatch repair (MMR), as assessed by the presence tumor microsatellite instability (MSI) and/or loss MMR protein expression IHC, has been useful for risk assessment, prognosis, and prediction treatment in patients with colorectal cancer. We analyzed tumors from 5927 Colorectal Cancer Family Registry recruited at six international consortium sites. evaluated appropriate percentage cutoff used to distinguish three MSI phenotypes [ie, stable (MSS), low (MSI-L), high (MSI-H)]; sensitivity, specificity, performance characteristics individual markers; concordance between IHC phenotypes. Guided results testing, our findings indicate that distinction an MSI-H phenotype a low-instability or MSS can best be accomplished using 30% greater markers showing instability. sensitivity specificity mononucleotide were higher than those dinucleotide markers. Specifically, BAT26 BAT25 had highest (94%) (98%), use alone identified 97% cases correctly. As expected, correlated older age diagnosis, proximal colon, female sex.