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• W2116735736 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" @default.
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• W2116735736 date "2012-01-31" @default.
• W2116735736 modified "2023-10-17" @default.
• W2116735736 title "Sporadic or familial head neck paragangliomas enrolled in a single center: Clinical presentation and genotype/phenotype correlations" @default.
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• W2116735736 doi "https://doi.org/10.1002/hed.22910" @default.
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