Document Detail

Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
MedLine Citation:
PMID:  21106325     Owner:  NLM     Status:  MEDLINE    
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.
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.
Section of Vascular Surgery, University of Michigan School of Medicine, CVC 5364, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5867, USA.
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MeSH Terms
Aortography / methods
Carotid Body Tumor / enzymology,  genetics*,  radiography,  surgery
DNA Mutational Analysis
Genetic Predisposition to Disease
Germ-Line Mutation*
Membrane Proteins / genetics*
Neoplasms, Multiple Primary / enzymology,  genetics*,  radiography,  surgery
Paraganglioma, Extra-Adrenal / enzymology,  genetics*,  radiography,  surgery
Thoracic Neoplasms / enzymology,  genetics*,  radiography,  surgery
Tomography, X-Ray Computed
Reg. No./Substance:
0/Membrane Proteins; 0/SDHC protein, human

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