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Immunohistochemistry Versus Microsatellite Instability Testing in Phenotyping Colorectal Tumors

Noralane M. Lindor, Lawrence J. Burgart, Olga N. Leontovich, Richard M. Goldberg, Julie M. Cunningham, Daniel J. Sargent, Catherine Walsh-Vockley, Gloria M. Petersen, Michael D. Walsh, Barbara Leggett, Joanne P Young, Melissa A Barker, Jeremy R. Jass, John Llewelyn Hopper, Steve Gallinger, Bharati V. Bapat, Mark S. Redston, Stephen N. Thibodeau·2002·Journal of Clinical Oncology

Abstract

PURPOSE: To compare microsatellite instability (MSI) testing with immunohistochemical (IHC) detection of hMLH1 and hMSH2 in colorectal cancer. PATIENTS AND METHODS: Colorectal cancers from 1,144 patients were assessed for DNA mismatch repair deficiency by two methods: MSI testing and IHC detection of hMLH1 and hMSH2 gene products. High-frequency MSI (MSI-H) was defined as more than 30% instability of at least five markers; low-level MSI (MSI-L) was defined as 1% to 29% of loci unstable. RESULTS: Of 1,144 tumors tested, 818 showed intact expression of hMLH1 and hMSH2. Of these, 680 were microsatellite stable (MSS), 27 were MSI-H, and 111 were MSI-L. In all, 228 tumors showed absence of hMLH1 expression and 98 showed absence of hMSH2 expression: all were MSI-H. CONCLUSION: IHC in colorectal tumors for protein products hMLH1 and hMSH2 provides a rapid, cost-effective, sensitive (92.3%), and extremely specific (100%) method for screening for DNA mismatch repair defects. The predictive value of normal IHC for an MSS/MSI-L phenotype was 96.7%, and the predictive value of abnormal IHC was 100% for an MSI-H phenotype. Testing strategies must take into account acceptability of missing some cases of MSI-H tumors if only IHC is performed.

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Metadata

Authors
Lindor, N. M., Burgart, L. J., Leontovich, O. N., Goldberg, R. M., Cunningham, J. M., Sargent, D. J., Walsh-Vockley, C., Petersen, G. M., Walsh, M. D., Leggett, B., Young, J. P., Barker, M. A., Jass, J. R., Hopper, J. L., Gallinger, S., Bapat, B. V., Redston, M. S., & Thibodeau, S. N.
Venue
Journal of Clinical Oncology
Publisher
Lippincott Williams & Wilkins
Published
2002-02-15
Volume
20
Issue
4
Pages
1043-1048
ISSN
0732-183X (ISSN-L)
OpenAlex
W2096857955
Cited by
817
References
39
FWCI
32.17
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Immunohistochemistry Versus Microsatellite Instability Testing in Phenotyping Colorectal Tumors. https://app.cochat.ai/papers/10.1200/jco.20.4.1043
The paper
Lindor, N. M., Burgart, L. J., Leontovich, O. N., Goldberg, R. M., Cunningham, J. M., Sargent, D. J., Walsh-Vockley, C., Petersen, G. M., Walsh, M. D., Leggett, B., Young, J. P., Barker, M. A., Jass, J. R., Hopper, J. L., Gallinger, S., Bapat, B. V., Redston, M. S., & Thibodeau, S. N. (2002). Immunohistochemistry Versus Microsatellite Instability Testing in Phenotyping Colorectal Tumors. Journal of Clinical Oncology. https://doi.org/10.1200/jco.20.4.1043

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.