title: SDHB gene mutation in a carotid body paraganglioma: case report and review of the paraganglioma syndromes.
abstract: Carotid body tumors represent the most common of head and neck tumors. They account for <0.03% of all human tumors. The underlying physiology and pathogenesis of this tumor type are not well understood. Several different genetic abnormalities have been associated with the development of carotid body paragangliomas. We present a case report with an unusual genetic mutation in the SDHB gene and a review of the paraganglioma syndromes.
authors: Department of Surgery, The Ohio State University, Columbus, OH. Electronic address: lapeterson2@gmail.com.
authors: Laura A
authors: LA
authors: Peterson
authors: Department of Surgery, The Ohio State University, Columbus, OH.
authors: Maria
authors: M
authors: Litzendorf
authors: Department of Surgery, The Ohio State University, Columbus, OH.
authors: Matthew D
authors: MD
authors: Ringel
authors: Department of Surgery, The Ohio State University, Columbus, OH.
authors: Patrick S
authors: PS
authors: Vaccaro
mesh_terms: D000328:Adult; D002345:Carotid Body Tumor / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D004273:DNA, Neoplasm / Q000235:genetics*; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013385:Succinate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome; D018608:Ultrasonography, Doppler
chemical_list: D004273:DNA, Neoplasm; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase