First case report of Muir-Torre syndrome associated with non-small cell lung cancer
First case report of Muir-Torre syndrome associated with non-small cell lung cancer
The eponymous Muir–Torre syndrome (MTS) is a clinical variant of hereditary non polyposis colorectal cancer, and is defined as an autosomal dominant condition with simultaneous sebaceous neoplasms of the skin and visceral malignant disease resulting from germline mutations in the DNA mismatch repair (MMR) genes. To date the most common visceral malignancy described is colorectal cancer, which is seen in approximately 50% of cases. Other clearly associated tumours include endometrial adenocarcinomas, urothelial transitional cell carcinomas, upper gastrointestinal adenocarcinomas, sebaceous adenomas and ovarian (often mucinous) carcinomas. Here we report the first recorded case of adenocarcinoma of the lung with loss of MMR gene function to be identified in a patient with MTS. The MMR deficient lung tumour demonstrated less aggressive clinical behaviour compared with a synchronous MMR proficient lung adenocarcinoma.
359-362
Nolan, L.
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Eccles, D.
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Cross, E.
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Crawford, G.
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Beck, N.
551a69f6-ed19-4e40-90fc-cc714aad7087
Bateman, A.
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Ottensmeier, C.
42b8a398-baac-4843-a3d6-056225675797
1 December 2009
Nolan, L.
8711336e-dc97-46b4-b2f3-186bca774cc3
Eccles, D.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Cross, E.
e6fa30f2-f1b1-4f3f-8dd8-0497d9bde386
Crawford, G.
c49ec103-2936-4897-8f25-96abe25b3a9f
Beck, N.
551a69f6-ed19-4e40-90fc-cc714aad7087
Bateman, A.
a851558d-8b9b-4020-b148-a239c2b26815
Ottensmeier, C.
42b8a398-baac-4843-a3d6-056225675797
Nolan, L., Eccles, D., Cross, E., Crawford, G., Beck, N., Bateman, A. and Ottensmeier, C.
(2009)
First case report of Muir-Torre syndrome associated with non-small cell lung cancer.
Familial Cancer, 8 (4), .
(doi:10.1007/s10689-009-9247-7).
Abstract
The eponymous Muir–Torre syndrome (MTS) is a clinical variant of hereditary non polyposis colorectal cancer, and is defined as an autosomal dominant condition with simultaneous sebaceous neoplasms of the skin and visceral malignant disease resulting from germline mutations in the DNA mismatch repair (MMR) genes. To date the most common visceral malignancy described is colorectal cancer, which is seen in approximately 50% of cases. Other clearly associated tumours include endometrial adenocarcinomas, urothelial transitional cell carcinomas, upper gastrointestinal adenocarcinomas, sebaceous adenomas and ovarian (often mucinous) carcinomas. Here we report the first recorded case of adenocarcinoma of the lung with loss of MMR gene function to be identified in a patient with MTS. The MMR deficient lung tumour demonstrated less aggressive clinical behaviour compared with a synchronous MMR proficient lung adenocarcinoma.
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Published date: 1 December 2009
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Local EPrints ID: 69923
URI: http://eprints.soton.ac.uk/id/eprint/69923
ISSN: 1389-9600
PURE UUID: a7e5da41-8cc7-48c1-928b-f289b0dd9cf7
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Date deposited: 10 Dec 2009
Last modified: 14 Mar 2024 02:34
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Author:
L. Nolan
Author:
E. Cross
Author:
N. Beck
Author:
A. Bateman
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