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Sporadic or familial head neck paragangliomas enrolled in a single center: Clinical presentation and genotype/phenotype correlations


  • Giampaolo Bernini, Tonino Ercolino, and Massimo Mannelli are members of the European Network for the Study of Adrenal Tumors.



The purpose of this study was to investigate clinical features and prevalence of germline mutations of patients with head/neck paragangliomas.


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.


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.


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