title: Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations.
abstract: BACKGROUND
  The purpose of this study was to investigate clinical features and prevalence of germline mutations of patients with head/neck paragangliomas.
  
  
  METHODS
  Genetic analysis on known susceptibility genes for paragangliomas (VHL, RET, SDHB, SDHC, SDHD, and SDHAF2) was performed in 17 consecutive patients with head/neck paraganglioma (age range, 14-82 years) and 17 relatives.
  
  
  RESULTS
  Head/neck paragangliomas were usually symptomatic with "mass effect" (88.2%), without family history (82.3%), often multifocal (41.2%), never functioning, and malignant. Germline mutations were detected in 7 of 17 patients (41%; 6 SDHD and 1 SDHB). Patients with mutations were younger, with head/neck paragangliomas usually multifocal and with higher biologic aggressiveness than wild-type subjects. To date, 4 families have been studied and the prevalence of carriers was elevated (58.8%). These mutated relatives (age range, 17-71 years) were disease-free, except 4 patients in whom multiple head/neck paragangliomas were detected.
  
  
  CONCLUSIONS
  Adequate morpho-functional screening and follow-up and, if possible, genetic testing is advisable in patients with head/neck paraganglioma.
authors.affiliation: Department of Internal Medicine, University of Pisa, Ospedale Santa Chiara, Pisa, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bacca
authors.forename: Stefano
authors.initials: S
authors.lastname: Sellari Franceschini
authors.forename: Davide
authors.initials: D
authors.lastname: Carrara
authors.forename: Matteo
authors.initials: M
authors.lastname: Bernini
authors.forename: Virna
authors.initials: V
authors.lastname: Zampa
authors.forename: Stefano
authors.initials: S
authors.lastname: Taddei
authors.forename: Paolo
authors.initials: P
authors.lastname: Miccoli
authors.forename: Caterina
authors.initials: C
authors.lastname: Congregati
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
authors.forename: Mauro
authors.initials: M
authors.lastname: Ferrari
authors.forename: Giampaolo
authors.initials: G
authors.lastname: Bernini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies / Q000706:statistics & numerical data*; D018095:Germ-Line Mutation / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D010235:Paraganglioma / Q000235:genetics*; D015995:Prevalence; D011446:Prospective Studies; D055815:Young Adult