title: Paragangliomas in patients with mutations of the SDHD gene.
abstract: OBJECTIVE
  Paragangliomas represent neoplasms of neural crest origin that arise from paraganglia. Mutations in the gene encoding succinate dehydrogenase subunit D (SDHD) are responsible for a percentage of hereditary paragangliomas. We previously described a group of 271 pheochromocytoma patients, 11 of whom had mutations of the SDHD gene. The objective of this study was to find out whether those 11 patients had additional paragangliomas.
  
  
  METHODS
  Ten patients participated in our clinical screening program that included MRI of the skull base and neck, thorax, and abdomen, as well as an 18 Fluoro-DOPA positron emission tomography (DOPA-PET).
  
  
  RESULTS
  Five patients presented with head and neck paragangliomas, 1 patient with a thoracic paraganglioma, and 2 patients with intraabdominal paragangliomas.
  
  
  CONCLUSIONS
  The screening for paragangliomas in patients with mutations of the SDHD gene offers the chance to diagnose those tumors in an early stage.
  
  
  CONCLUSIONS
  Because morbidity after surgical resection increases with tumor size, early surgery will minimize the potential risks.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, University of Freiburg, Germany. boedeck@hno.ukl.uni-freiburg.de
authors.forename: Carsten Christof
authors.initials: CC
authors.lastname: Boedeker
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
authors.forename: Gerd Jürgen
authors.initials: GJ
authors.lastname: Ridder
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Maier
authors.forename: Jörg
authors.initials: J
authors.lastname: Schipper
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010235:Paraganglioma / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D013385:Succinate Dehydrogenase
chemical_list: D008565:Membrane Proteins; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase