title: High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET.
abstract: OBJECTIVE
  Knowledge of the genetic backgrounds of hereditary syndromes, which are increasingly being characterized, enables genetic screening of family members of affected patients. Upon detection of a mutation, genetic counselling and clinical screening including imaging modalities and biochemical analyses are commonly performed.
  
  
  METHODS
  Unaffected, mutation-positive relatives of index patients with hereditary paraganglioma syndromes were offered PET imaging with [(18)F]fluorodihydroxyphenylalanine and the incidence of pathological findings was retrospectively analysed in relation to mutations of the succinate dehydrogenase enzyme complex. PET only or PET/CT was performed in 21 individuals from eight families with SDHD, one family with SDHC and two families with SDHB mutations. Screening was offered every 2 to 5 years.
  
  
  RESULTS
  Of the 21 individuals, 14 showed paraganglioma during screening. In particular, in only 2 of 15 patients with a SDHD mutation were the findings completely unremarkable on PET screening. However, false-negative lesions for abdominal manifestations in two SDHD-positive patients were detected.
  
  
  CONCLUSIONS
  FDOPA PET is a sensitive imaging modality which should be offered to patients with a detected SDHx (SDHD) mutation, preferably using a hybrid technique.
authors: Department of Nuclear Medicine, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany. Matthias.miederer@unimedizin-mainz.de
authors: Matthias
authors: M
authors: Miederer
authors: Christian
authors: C
authors: Fottner
authors: Heidi
authors: H
authors: Rossmann
authors: Andreas
authors: A
authors: Helisch
authors: Konstantinos
authors: K
authors: Papaspyrou
authors: Oliver
authors: O
authors: Bartsch
authors: Wolf J
authors: WJ
authors: Mann
authors: Thomas J
authors: TJ
authors: Musholt
authors: Matthias M
authors: MM
authors: Weber
authors: Karl J
authors: KJ
authors: Lackner
authors: Mathias
authors: M
authors: Schreckenberger
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004295:Dihydroxyphenylalanine / Q000031:analogs & derivatives*; D005188:False Negative Reactions; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D009154:Mutation; D010236:Paraganglioma, Extra-Adrenal / Q000453:epidemiology* / Q000235:genetics*; D049268:Positron-Emission Tomography; D012680:Sensitivity and Specificity; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
chemical_list: C043437:fluorodopa F 18; D004295:Dihydroxyphenylalanine; D013385:Succinate Dehydrogenase
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