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Familial Cancer
Published in: Familial Cancer 3/2010

01-09-2010

Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma

Authors: D. E. McIlvried, R. E. Birhiray, J. Z. Lu

Published in: Familial Cancer | Issue 3/2010

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Abstract

As we learn more about the etiology and cancer risks associated with Lynch syndrome (LS), the phenotypic spectrum of this condition and its genotype-phenotype correlations are being elucidated. We report a patient with past history of multiple cancers including colon and kidney cancer, and recently diagnosed with jejunal adenocarcinoma. The patient had microsatellite instability and immunohistochemistry (MSI/IHC) testing performed on his small bowel cancer in order to evaluate his risk for LS. The MSI/IHC results on his tumor tissue were reported as abnormal and subsequent blood draw revealed the presence of a germline MSH6 mismatch repair gene mutation. This case highlights the phenotypic variability of LS and complications it may present in evaluation for diagnosis and appropriate surveillance and management recommendations. To our knowledge, this is the first report of MSI/IHC being done on small bowel cancer to evaluate for this condition and subsequently confirmed via molecular analysis.
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Metadata
Title
Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma
Authors
D. E. McIlvried
R. E. Birhiray
J. Z. Lu
Publication date
01-09-2010
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-010-9339-4

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