Document Detail


Contiguous bilateral head and neck paragangliomas in a carrier of the SDHB germline mutation.
MedLine Citation:
PMID:  21820839     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Paragangliomas are extremely rare neoplasms with multicentric presentation usually linked to familial tumor syndromes. This patient presented with the uncommon combination of concurrent bilateral carotid body tumors and a unilateral glomus jugulare mass that demonstrated vascular continuity. During treatment, the patient was found to be heterozygous for the SDHB germline mutation, an autosomal dominant genotype of the familial paraganglioma syndromes associated with increased malignancy. The unique profile of the SDHB patient as regards primary evaluation, surgical considerations, and extended surveillance was explored and has led to a proposed treatment algorithm for these patients.
Authors:
Nicole Collins; Alan Dietzek
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2011-08-06
Journal Detail:
Title:  Journal of vascular surgery     Volume:  55     ISSN:  1097-6809     ISO Abbreviation:  J. Vasc. Surg.     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2011-12-20     Completed Date:  2012-02-02     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:  216-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.
Affiliation:
Section of Vascular and Endovascular Surgery, Danbury Hospital, 41 Germantown Rd, Suite 101, Danbury, CT 06810, USA. [corrected].
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MeSH Terms
Descriptor/Qualifier:
Carotid Body Tumor / enzymology,  genetics*,  pathology,  surgery
DNA Mutational Analysis
Genetic Predisposition to Disease
Glomus Jugulare Tumor / enzymology,  genetics*,  pathology,  surgery
Heterozygote
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation*
Neoplasms, Multiple Primary*
Phenotype
Succinate Dehydrogenase / genetics*
Tomography, X-Ray Computed
Treatment Outcome
Chemical
Reg. No./Substance:
EC 1.3.5.1/SDHB protein, human; EC 1.3.99.1/Succinate Dehydrogenase
Comments/Corrections
Erratum In:
J Vasc Surg. 2012 Feb;55(2):627

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


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