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Microsatellite instability in colorectal adenomas and hyperplastic polyps in Lynch syndrome

Authors
Publisher
BioMed Central
Publication Date
Volume
9
Identifiers
DOI: 10.1186/1897-4287-9-s1-o4
Keywords
  • Oral Presentation
Disciplines
  • Biology
  • Chemistry
  • Medicine

Abstract

Microsatellite instability in colorectal adenomas and hyperplastic polyps in Lynch syndrome ORAL PRESENTATION Open Access Microsatellite instability in colorectal adenomas and hyperplastic polyps in Lynch syndrome Matthew B Yurgelun1*, Ajay Goel2, C Richard Boland2, Elena M Stoffel3, Investigators of the Great Lakes-New England Early Detection Research Network (GLNE-EDRN) From 14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer Dallas, TX, USA. 12-13 October 2010 Background Lynch syndrome is characterized by germline mutations in DNA mismatch repair (MMR) genes and carries up to a 70% lifetime risk of colorectal cancer. Impaired MMR gene function results in an abundance of small aberrant nucleotide repeat sequences termed microsatel- lite instability (MSI). MSI is present in 80-85% of color- ectal cancers associated with Lynch syndrome. Prior studies have demonstrated that MMR gene function (as measured by immunohistochemistry) is often lost in Lynch-associated adenomas but is preserved in hyper- plastic polyps. The aim of our study was to evaluate the prevalence of MSI in adenomatous and hyperplastic polyps from individuals with Lynch Syndrome. Materials and methods We identified 63 polyps (37 adenomas and 26 hyper- plastic polyps) from 34 subjects with known germline MMR gene mutations. Clinicopathological information for each polyp was obtained from retrospective review of pathology reports. MSI analysis was performed on microdissected polyp DNA using pentaplex PCR for a panel of five quasimonomorphic mononucleotide repeat sequences [1]. If ≥2/5 sequences were mutated, the polyp was determined to have MSI. Results MSI was identified in 14/37 (38%) adenomas, compared with 3/26 (12%) hyperplastic polyps (p = 0.021). Preva- lence of MSI was significantly higher in larger polyps; among the lesions ≥10mm, 6/7 (86%) adenomas and 1/1 (100%) hyperplastic polyps demonstrated MSI. There was no association between MSI status and patient sex

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