title: Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations.
abstract: BACKGROUND
  Hereditary paraganglioma-pheochromocytoma syndromes (PGL/PCC) are rare tumors arising from neuroendocrine cells.
  
  
  RESULTS
  The proband, a 59-year-old white man and his 42-year-old elder son had a medical history of bilateral carotid body PGL and both presented for treatment of abdominal PGLs. His 36-year-old daughter had excision of recurrent malignant carotid body PGL and vertebral metastasis. His 33-year-old youngest son presented for excision of a unilateral carotid body PGL. All 4 members had succinate dehydrogenase subunit D (SDHD) mutations, whereas the proband and youngest son also had concurrent rearranged during transfection (RET) mutation.
  
  
  CONCLUSIONS
  This is the first report of PGL/PCC with SDHD and RET mutations. The role of the RET gene as a modifier remains speculative. Additionally, the family pedigree suggests maternal inheritance of disease from the probands' paternal grandmother. Clinicians should refer PGL/PCC families for mutation analysis as well as being alert to changes in the classification of mutations.
authors.affiliation: Academic Unit of Surgery, Australian National University Medical School, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.
authors.forename: Joseph Do Woong
authors.initials: Jdo W
authors.lastname: Choi
authors.forename: Katherine M
authors.initials: KM
authors.lastname: Tucker
authors.forename: Tack Tsiew
authors.initials: TT
authors.lastname: Lee
authors.forename: Guan C
authors.initials: GC
authors.lastname: Chong
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics; D000328:Adult; D002345:Carotid Body Tumor / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010235:Paraganglioma / Q000235:genetics*; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013577:Syndrome
chemical_list: C491545:SDHD protein, human; D013385:Succinate Dehydrogenase; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human
keywords: hereditary; paraganglioma; pheochromocytoma; rearranged during transfection (RET) mutation; succinate dehydrogenase subunit D (SDHD) mutation