title: Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
abstract: 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.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
authors.forename: Frank C
authors.initials: FC
authors.lastname: Vandy
authors.forename: Geoffroy
authors.initials: G
authors.lastname: Sisk
authors.forename: Ramon
authors.initials: R
authors.lastname: Berguer
mesh_terms: D000328:Adult; D001027:Aortography / Q000379:methods; D002345:Carotid Body Tumor / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D010236:Paraganglioma, Extra-Adrenal / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D010375:Pedigree; D013899:Thoracic Neoplasms / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D014057:Tomography, X-Ray Computed
chemical_list: D008565:Membrane Proteins; C108096:SDHC protein, human