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Keywords:

  • paragangliomas;
  • succinate dehydrogenase mutation;
  • genotype;
  • phenotype

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.

Conclusion

Adequate morpho-functional screening and follow-up and, if possible, genetic testing is advisable in patients with head/neck paraganglioma. © 2012 Wiley Periodicals, Inc. Head Neck, 2013