title: Contiguous bilateral head and neck paragangliomas in a carrier of the SDHB germline mutation.
abstract: Paragangliomas are extremely rare neoplasms with multicentric presentation usually linked to familial tumor syndromes. This patient presented with the uncommon combination of concurrent bilateral carotid body tumors and a unilateral glomus jugulare mass that demonstrated vascular continuity. During treatment, the patient was found to be heterozygous for the SDHB germline mutation, an autosomal dominant genotype of the familial paraganglioma syndromes associated with increased malignancy. The unique profile of the SDHB patient as regards primary evaluation, surgical considerations, and extended surveillance was explored and has led to a proposed treatment algorithm for these patients.
authors.affiliation: Section of Vascular and Endovascular Surgery, Danbury Hospital, 41 Germantown Rd, Suite 101, Danbury, CT 06810, USA. [corrected].
authors.forename: Nicole
authors.initials: N
authors.lastname: Collins
authors.forename: Alan
authors.initials: A
authors.lastname: Dietzek
mesh_terms: D002345:Carotid Body Tumor / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005925:Glomus Jugulare Tumor / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009378:Neoplasms, Multiple Primary; D010641:Phenotype; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: C108095:SDHB protein, human; D013385:Succinate Dehydrogenase