title: Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome.
abstract: Functioning thoracic paraganglioma (pheochromocytoma) is unusual and therefore suggestive of a pathogenesis distinct from that of sporadic adrenal pheochromocytoma. To determine whether the pheochromocytoma-associated syndromes Von Hippel-Lindau disease (VHL) and multiple endocrine neoplasia type 2 (MEN 2) play a role in the development of thoracic functioning paragangliomas, germline DNA from five unselected patients with this rare tumor was analyzed for mutations in the genes that predispose to VHL and MEN 2. Genetic investigations and further clinical data revealed that three had VHL, with two different germline mutations of the vhl gene, but no individual was affected by MEN 2. Two of the three patients with VHL did not show any additional VHL-associated lesions. This result suggests that VHL should be considered in the differential diagnosis of thoracic pheochromocytoma, as such a diagnosis carries further important implications for the patient and family. Conversely, in patients suspected of a catecholamine-secreting tumor and known VHL, thoracic localization should be considered if an adrenal pheochromocytoma cannot be detected.
authors.affiliation: Department of Internal Medicine, Albert Ludwigs University, Freiburg, Germany.
authors.forename: B U
authors.initials: BU
authors.lastname: Bender
authors.forename: C
authors.initials: C
authors.lastname: Altehöfer
authors.forename: A
authors.initials: A
authors.lastname: Januszewicz
authors.forename: R
authors.initials: R
authors.lastname: Gärtner
authors.forename: H
authors.initials: H
authors.lastname: Schmidt
authors.forename: M M
authors.initials: MM
authors.lastname: Hoffmann
authors.forename: P H
authors.initials: PH
authors.lastname: Heidemann
authors.forename: H P
authors.initials: HP
authors.lastname: Neumann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010235:Paraganglioma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010673:Pheochromocytoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013899:Thoracic Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000235:genetics
chemical_list: D004247:DNA