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Muir–Torre syndrome in a haemodialysis patient
Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mi...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Oxford University Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898341/ https://www.ncbi.nlm.nih.gov/pubmed/27293570 http://dx.doi.org/10.1093/ckj/sft068 |
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author | Godfrey, Evonne D. Coward, Robert A. Gharpuray-Pandit, Deepa Lalloo, Fiona McKirdy, Stuart Woywodt, Alexander |
author_facet | Godfrey, Evonne D. Coward, Robert A. Gharpuray-Pandit, Deepa Lalloo, Fiona McKirdy, Stuart Woywodt, Alexander |
author_sort | Godfrey, Evonne D. |
collection | PubMed |
description | Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) or with multiple keratoacanthomas. These patients also have an increased lifetime risk of visceral malignancies, typically affecting the colon, ovary, endometrium, genitourinary tract and small bowel. We describe a case of MTS in a haemodialysis patient and implications for transplant listing. |
format | Online Article Text |
id | pubmed-4898341 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-48983412016-06-10 Muir–Torre syndrome in a haemodialysis patient Godfrey, Evonne D. Coward, Robert A. Gharpuray-Pandit, Deepa Lalloo, Fiona McKirdy, Stuart Woywodt, Alexander Clin Kidney J Original Contributions Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) or with multiple keratoacanthomas. These patients also have an increased lifetime risk of visceral malignancies, typically affecting the colon, ovary, endometrium, genitourinary tract and small bowel. We describe a case of MTS in a haemodialysis patient and implications for transplant listing. Oxford University Press 2013-08 /pmc/articles/PMC4898341/ /pubmed/27293570 http://dx.doi.org/10.1093/ckj/sft068 Text en © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Original Contributions Godfrey, Evonne D. Coward, Robert A. Gharpuray-Pandit, Deepa Lalloo, Fiona McKirdy, Stuart Woywodt, Alexander Muir–Torre syndrome in a haemodialysis patient |
title | Muir–Torre syndrome in a haemodialysis patient |
title_full | Muir–Torre syndrome in a haemodialysis patient |
title_fullStr | Muir–Torre syndrome in a haemodialysis patient |
title_full_unstemmed | Muir–Torre syndrome in a haemodialysis patient |
title_short | Muir–Torre syndrome in a haemodialysis patient |
title_sort | muir–torre syndrome in a haemodialysis patient |
topic | Original Contributions |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898341/ https://www.ncbi.nlm.nih.gov/pubmed/27293570 http://dx.doi.org/10.1093/ckj/sft068 |
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