Synchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation.
Canney, A Sheahan, K Keegan, D Tolan, M Hyland, J Green, A
Canney, A
Sheahan, K
Keegan, D
Tolan, M
Hyland, J
Green, A
Advisors
Editors
Other Contributors
Date
2012-02-01T10:29:49Z
Date Submitted
Keywords
Other Subjects
Subject 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
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
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
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
Citation
ISSN
1472-4146 (Electronic)
0021-9746 (Linking)
0021-9746 (Linking)
eISSN
ISBN
DOI
10.1136/jcp.2008.063008
PMID
19398597