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dc.contributor.authorCanney, A
dc.contributor.authorSheahan, K
dc.contributor.authorKeegan, D
dc.contributor.authorTolan, M
dc.contributor.authorHyland, J
dc.contributor.authorGreen, A
dc.date.accessioned2012-02-01T10:29:49Z
dc.date.available2012-02-01T10:29:49Z
dc.date.issued2012-02-01T10:29:49Z
dc.identifier.citationJ Clin Pathol. 2009 May;62(5):471-3.en_GB
dc.identifier.issn1472-4146 (Electronic)en_GB
dc.identifier.issn0021-9746 (Linking)en_GB
dc.identifier.pmid19398597en_GB
dc.identifier.doi10.1136/jcp.2008.063008en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207508
dc.description.abstractMutations 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.
dc.language.isoengen_GB
dc.subject.meshAdenocarcinoma/*genetics/pathologyen_GB
dc.subject.meshColorectal Neoplasms/*geneticsen_GB
dc.subject.meshDNA Mutational Analysis/methodsen_GB
dc.subject.mesh*Germ-Line Mutationen_GB
dc.subject.meshHumansen_GB
dc.subject.meshLung Neoplasms/*genetics/pathologyen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshMutS Homolog 2 Protein/*geneticsen_GB
dc.subject.meshNeoplasms, Multiple Primary/*genetics/pathologyen_GB
dc.subject.meshPedigreeen_GB
dc.titleSynchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation.en_GB
dc.contributor.departmentDepartment of Histopathology, St Vincent's University Hospital, Elm Park, Dublin,, Ireland. aoife_canney@hotmail.comen_GB
dc.identifier.journalJournal of clinical pathologyen_GB
dc.description.provinceLeinster
html.description.abstractMutations 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.


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