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Sporadic or familial head neck paragangliomas enrolled in a single center: Clinical presentation and genotype/phenotype correlations
Author(s) -
Bacca Alessandra,
Sellari Franceschini Stefano,
Carrara Davide,
Bernini Matteo,
Zampa Virna,
Taddei Stefano,
Miccoli Paolo,
Congregati Caterina,
Simi Paolo,
Ferrari Mauro,
Bernini Giampaolo
Publication year - 2013
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.22910
Subject(s) - sdhd , sdhb , medicine , paraganglioma , head and neck , germline mutation , genotype , head and neck cancer , neck mass , family history , mutation , pathology , surgery , genetics , cancer , gene , biology
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