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    Synchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation.

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    Authors
    Canney, A
    Sheahan, K
    Keegan, D
    Tolan, M
    Hyland, J
    Green, A
    Affiliation
    Department of Histopathology, St Vincent's University Hospital, Elm Park, Dublin,, Ireland. aoife_canney@hotmail.com
    Issue Date
    2012-02-01T10:29:49Z
    MeSH
    Adenocarcinoma/*genetics/pathology
    Colorectal Neoplasms/*genetics
    DNA Mutational Analysis/methods
    *Germ-Line Mutation
    Humans
    Lung Neoplasms/*genetics/pathology
    Male
    Middle Aged
    MutS Homolog 2 Protein/*genetics
    Neoplasms, Multiple Primary/*genetics/pathology
    Pedigree
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    Citation
    J Clin Pathol. 2009 May;62(5):471-3.
    Journal
    Journal of clinical pathology
    URI
    http://hdl.handle.net/10147/207508
    DOI
    10.1136/jcp.2008.063008
    PubMed ID
    19398597
    Abstract
    Mutations of DNA mismatch repair genes are characterised by microsatellite instability and are implicated in carcinogenesis. This mutation susceptible phenotype has been extensively studied in patients with hereditary non-polyposis colon carcinoma, but little is known of the contribution of such mutations in other tumour types, particularly non-small-cell lung carcinoma. This report describes the occurrence of two synchronous lung tumours, one mimicking a metastatic colon carcinoma, in a male patient with a history of metachronous colonic carcinoma. Immunohistochemistry supported a pulmonary origin for both lesions. Mismatch repair protein immunohistochemistry showed loss of MSH2 and MSH6 expression in both colonic tumours and in one lung tumour showing enteric differentiation. Subsequent mutational analysis demonstrated a deleterious germline mutation of the MSH2 mismatch repair gene. The significance of these findings and the practical diagnostic difficulties encountered in this case are discussed.
    Language
    eng
    ISSN
    1472-4146 (Electronic)
    0021-9746 (Linking)
    ae974a485f413a2113503eed53cd6c53
    10.1136/jcp.2008.063008
    Scopus Count
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    St. Vincent's University Hospital

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