A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract

Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromoso...

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Autores principales: Shahnazari, Banafshe, Aghamaleki, Aria, Larijani, Bagher, Mohajeri Tehrani, Mohammad Reza, Rafati, Hasan, Babamahmoodi, Abdolreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472613/
https://www.ncbi.nlm.nih.gov/pubmed/23093970
http://dx.doi.org/10.1155/2012/491054
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author Shahnazari, Banafshe
Aghamaleki, Aria
Larijani, Bagher
Mohajeri Tehrani, Mohammad Reza
Rafati, Hasan
Babamahmoodi, Abdolreza
author_facet Shahnazari, Banafshe
Aghamaleki, Aria
Larijani, Bagher
Mohajeri Tehrani, Mohammad Reza
Rafati, Hasan
Babamahmoodi, Abdolreza
author_sort Shahnazari, Banafshe
collection PubMed
description Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromosome 10 (10q11.2) and has also been identified both for MEN2A and MEN2B. The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula. Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B.
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spelling pubmed-34726132012-10-23 A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract Shahnazari, Banafshe Aghamaleki, Aria Larijani, Bagher Mohajeri Tehrani, Mohammad Reza Rafati, Hasan Babamahmoodi, Abdolreza Case Rep Med Case Report Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromosome 10 (10q11.2) and has also been identified both for MEN2A and MEN2B. The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula. Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B. Hindawi Publishing Corporation 2012 2012-10-08 /pmc/articles/PMC3472613/ /pubmed/23093970 http://dx.doi.org/10.1155/2012/491054 Text en Copyright © 2012 Banafshe Shahnazari et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Shahnazari, Banafshe
Aghamaleki, Aria
Larijani, Bagher
Mohajeri Tehrani, Mohammad Reza
Rafati, Hasan
Babamahmoodi, Abdolreza
A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_full A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_fullStr A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_full_unstemmed A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_short A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_sort case of multiple endocrine neoplasia type 2b and gangliomatosis of gastrointestinal tract
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472613/
https://www.ncbi.nlm.nih.gov/pubmed/23093970
http://dx.doi.org/10.1155/2012/491054
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