MSI-testing in hereditary non-polyposis colorectal carcinoma (HNPCC)

Mueller, Annegret and Edmonston, Tina Bocker and Dietmaier, Wolfgang and Buettner, Reinhard and Fishel, Richard and Rueschoff, Josef (2004) MSI-testing in hereditary non-polyposis colorectal carcinoma (HNPCC). DISEASE MARKERS, 20 (4-5). pp. 225-236. ISSN 0278-0240, 1875-8630

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Abstract

Genomic instability at simple repeated sequences, termed microsatellite instability (MSI). plays an important role in the analysis of sporadic and hereditary colon cancers. In hereditary non-polyposis colorectal cancer syndrome (HNPCC) more than 90% of cases show MSI, whereas only 10-15% of sporadic colorectal cancers do so. Thus. microsatellite analysis is commonly used as the first diagnostic screening test for HNPCC. In 1997, an international collaborative workshop sponsored by the National Cancer Institute (NCI) proposed a set of guidelines for MSI-testing to improve reliability and reproducibility of the analysis as well to allow comparisons between different studies and different laboratories. In this review we assess the value of current protocols for MSI-testing and discuss some diagnostic pitfalls. Our findings support continued use of the MSI marker panel recommended in 1997. Additionally, MSI-testing should be. improved by use of microdissection, which helps to identify additional patients with MSI due to enrichment of tumor cells and therefore increased sensitivity. In our view. immunohistochemical staining for mismatch repair protein expression is not a substitute for MSI-analysis but complements MSI screening and helps direct further testing. In summary, MSI-analysis is a highly sensitive and reliable screening method for HNPCC, that requires a well-equipped laboratory, as well as an experienced pathologist. Integration of family history and histo-pathological features is also critical.

Item Type: Article
Uncontrolled Keywords: MISMATCH REPAIR DEFICIENCY; TUMOR MICROSATELLITE-INSTABILITY; II RECEPTOR GENE; COLON-CANCER; GASTROINTESTINAL TUMORS; MUTATOR PHENOTYPE; HMLH1 PROMOTER; ADJUVANT CHEMOTHERAPY; FRAMESHIFT MUTATIONS; GENOMIC INSTABILITY; MSI-analysis; laser microdissection; immunohistochemistry
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Pathologie
Depositing User: Dr. Gernot Deinzer
Date Deposited: 02 Aug 2021 11:30
Last Modified: 02 Aug 2021 11:30
URI: https://pred.uni-regensburg.de/id/eprint/38150

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