Systematic screening and treatment evaluation of hereditary neck paragangliomas.
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.
Fish
John H
JH
Department of Vascular Surgery, Innsbruck Medical University, Innsbruck, Tyrol, Austria. john.fish@aurora.org
Klein-Weigel
Peter
P
Biebl
Matthias
M
Janecke
Andreas
A
Tauscher
Thomas
T
Fraedrich
Gustav
G
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
D018389:Codon, Nonsense; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase