Document Detail


Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
MedLine Citation:
PMID:  21106325     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Paraganglionic tumors are rare. A germline mutation responsible for a familial pattern of paragangliomas (PGLs) has been identified on the genes encoding for the subunits of succinate dehydrogenase (SDH). Manifestations of those with a succinate dehydrogenase subunit C (SDHC) germline mutation have been almost exclusively reported as single head and neck paragangliomas (HNPGLs). We present a 32-year-old man with a familial SDHC mutation who manifests synchronous PGLs of the carotid body and the thoracic aortopulmonary window. To our knowledge, this is the first report of such a presentation for this mutation.
Authors:
Frank C Vandy; Geoffroy Sisk; Ramon Berguer
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-11-23
Journal Detail:
Title:  Journal of vascular surgery     Volume:  53     ISSN:  1097-6809     ISO Abbreviation:  J. Vasc. Surg.     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-22     Completed Date:  2011-04-08     Revised Date:  2012-10-03    
Medline Journal Info:
Nlm Unique ID:  8407742     Medline TA:  J Vasc Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  805-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.
Affiliation:
Section of Vascular Surgery, University of Michigan School of Medicine, CVC 5364, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5867, USA. frankv@umich.edu
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MeSH Terms
Descriptor/Qualifier:
Adult
Aortography / methods
Carotid Body Tumor / enzymology,  genetics*,  radiography,  surgery
DNA Mutational Analysis
Genetic Predisposition to Disease
Germ-Line Mutation*
Humans
Male
Membrane Proteins / genetics*
Neoplasms, Multiple Primary / enzymology,  genetics*,  radiography,  surgery
Paraganglioma, Extra-Adrenal / enzymology,  genetics*,  radiography,  surgery
Pedigree
Thoracic Neoplasms / enzymology,  genetics*,  radiography,  surgery
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
0/Membrane Proteins; 0/SDHC protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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