The University of Southampton
University of Southampton Institutional Repository

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
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.
1389-9600
359-362
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.
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. (1970) First case report of Muir-Torre syndrome associated with non-small cell lung cancer. Familial Cancer, 8 (4), 359-362.

Record type: Article

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.

Full text not available from this repository.

More information

Published date: 1 January 1970

Identifiers

Local EPrints ID: 69923
URI: http://eprints.soton.ac.uk/id/eprint/69923
ISSN: 1389-9600
PURE UUID: a7e5da41-8cc7-48c1-928b-f289b0dd9cf7

Catalogue record

Date deposited: 10 Dec 2009
Last modified: 02 Nov 2017 14:31

Export record

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×