title: Utility of FDG-PET imaging in screening for succinate dehydrogenase B and D mutation-related lesions.
abstract: Mutations of the genes encoding succinate dehydrogenase B and D (SDHB, SDHD) are associated with highly penetrant phenotypes, including paragangliomas and phaeochromocytomas. Patients with these mutations require lifelong surveillance; however, there is currently ambiguity regarding the optimal screening regimen. We sought to determine the utility of fluorodeoxyglucose (18F) positron emission tomography (18F-FDG PET) imaging, compared to other modalities for detecting SDHB and SDHD mutation-related lesions.
  
  
  
  A retrospective audit of patients with SDHB or SDHD mutation.
  
  
  
  All adult patients with confirmed SDHB and SDHD mutations who underwent 18F-FDG PET/CT at our institution between 1 July 2011 and 30 May 2015.
  
  
  
  18F-FDG PET/computed tomography (CT) performed during surveillance of patients with SDHB and SDHD mutations. Lesion numbers and locations detected by 18F-FDG PET were compared to those identified on the CT component, as well as other imaging modalities and histology when available.
  
  
  
  Thirty-one 18F-FDG PET/CT studies were completed on 22 patients. For SDHB (20 patients), there were five positive and 21 negative studies. There were no false-negative 18F-FDG PET studies. Positive 18F-FDG PET findings correlated with magnetic resonance imaging (MRI), CT and [68 Ga]-DOTA(0)-Tyr(3)-octreotate (68 Ga DOTATATE PET/CT) imaging with no missed lesions; the only potential false-positive result relating to nonspecific postoperative changes (sensitivity 100·0%, specificity 95·5%). For SDHD (two patients), lesions were detected on 18F-FDG PET and correlated with other imaging in three of five studies. Metastatic lesions were incompletely visualized on 18F-FDG PET but were detected on the noncontrast fusion CT.
  
  
  
  18F-FDG PET/CT is suitable for detecting SDHB and SDHD mutation-related lesions and may be considered effective for periodic surveillance of patients with these mutations.
authors.affiliation: Department of Diabetes & Endocrinology, Royal Hobart Hospital, Hobart, TAS, Australia.
authors.forename: E R
authors.identifier: 0000-0002-6929-7266
authors.initials: ER
authors.lastname: Kornaczewski
authors.affiliation: Department of Nuclear Medicine, Royal Hobart Hospital, Hobart, TAS, Australia.
authors.forename: O P
authors.initials: OP
authors.lastname: Pointon
authors.affiliation: Department of Diabetes & Endocrinology, Royal Hobart Hospital, Hobart, TAS, Australia.|School of Medicine, University of Tasmania, Hobart, TAS, Australia.
authors.forename: J R
authors.initials: JR
authors.lastname: Burgess
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging; D000328:Adult; D000368:Aged; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018358:Neuroendocrine Tumors / Q000000981:diagnostic imaging*; D010235:Paraganglioma / Q000000981:diagnostic imaging / Q000235:genetics; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics; D049268:Positron-Emission Tomography / Q000379:methods*; D012189:Retrospective Studies; D013385:Succinate Dehydrogenase / Q000235:genetics*; D055815:Young Adult
chemical_list: C491545:SDHD protein, human; D019788:Fluorodeoxyglucose F18; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase