title: Systematic screening and treatment evaluation of hereditary neck paragangliomas.
abstract: Familial paragangliomas of the neck are often bilateral and more aggressive than spontaneous forms. Tumors appear earlier (2nd-4th decade) often with diffuse, multifocal involvement. Without treatment, these tumors can lead to significant morbidity. Three families with succinate dehydrogenase subunit D (SDHD) germline mutations underwent clinical and genetic evaluation. Patients were screened using ultrasound and evaluated further with conventional and functional imaging. Tumors with a diameter >1.5 cm were surgically removed. Multicentric and bilateral tumors were detected in 9/13 (69%) and 8/13 (62%) patients, respectively. Surgical morbidity occurred in 64% of patients. Local recurrence was 57%, although this was lower in tumors with a diameter <2 cm. We recommend an algorithm for a systematic approach to the diagnosis, monitoring, and treatment of familial head and neck paragangliomas. Operative treatment in advanced stages often leads to unwanted morbidity, such that earlier detection and treatment of smaller tumors seems to be of benefit.
authors.affiliation: Department of Vascular Surgery, Innsbruck Medical University, Innsbruck, Tyrol, Austria. john.fish@aurora.org
authors.forename: John H
authors.initials: JH
authors.lastname: Fish
authors.forename: Peter
authors.initials: P
authors.lastname: Klein-Weigel
authors.forename: Matthias
authors.initials: M
authors.lastname: Biebl
authors.forename: Andreas
authors.initials: A
authors.lastname: Janecke
authors.forename: Thomas
authors.initials: T
authors.lastname: Tauscher
authors.forename: Gustav
authors.initials: G
authors.lastname: Fraedrich
mesh_terms: D000465:Algorithms; D018389:Codon, Nonsense; D005260:Female; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000453:epidemiology; D010235:Paraganglioma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery*; D010375:Pedigree; D013385:Succinate Dehydrogenase / Q000235:genetics*; D018616:Ultrasonography, Doppler, Duplex
chemical_list: D018389:Codon, Nonsense; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase