title: Correlation of the genotype of paragangliomas and pheochromocytomas with their metabolic phenotype on 3,4-dihydroxy-6-18F-fluoro-L-phenylalanin PET.
abstract: Paragangliomas and pheochromocytomas are genetically heterogeneous diseases. The purpose of this study was to determine the sensitivity and specificity of PET with 3,4-dihydroxy-6-(18)F-fluoro-L-phenylalanin ((18)F-DOPA) for the detection and staging of pheochromocytomas/paragangliomas. Furthermore, we assessed whether the genotypes of pheochromocytomas and paragangliomas correlate with the uptake of (18)F-DOPA.
  
  
  METHODS
  We retrospectively analyzed 101 consecutive patients who underwent (18)F-DOPA PET or (18)F-DOPA PET/CT for known or suspected pheochromocytomas or paragangliomas. Maximum (18)F-DOPA tumor uptake was quantified relative to uptake in the liver.
  
  
  RESULTS
  Histopathology, cross-sectional imaging, and follow-up indicated the presence of paragangliomas and pheochromocytomas in 68 patients and the absence of a tumor in 33 patients. The average (18)F-DOPA uptake by paragangliomas and pheochromocytomas, expressed as a tumor-to-liver ratio, was 5.9 ± 5.2. There was no significant difference in uptake among patients with von Hippel Lindau syndrome (VHL; n = 19), succinate dehydrogenase B-D mutation (n = 21), neurofibromatosis type 1 (n = 1), RET (n = 1), no germline mutation (n = 20), or unknown mutation status (n = 6) (P = 0.84). All 8 patients with an SDHD mutation were true-positive on (18)F-DOPA PET. There were 2 cases of false-negative results each in the group with SDHB (2/12) and VHL mutations (2/19) and 1 false-negative result in the subgroup of patients with unknown mutation status (1/6). Overall, (18)F-DOPA PET yielded a sensitivity of 93% and a specificity of 88% for the detection of paragangliomas and pheochromocytomas on a patient basis (positive and negative predictive value, 94% and 85%, respectively).
  
  
  CONCLUSIONS
  (18)F-DOPA PET is a sensitive and specific imaging modality for the detection and staging of pheochromocytomas and paragangliomas in different genotypes, including VHL-, SDHB-, and SDHD-mutation carriers, and in patients with no germline mutation.
authors: Department of Nuclear Medicine, University of Freiburg, Freiburg, Germany.
authors: H Christian
authors: HC
authors: Rischke
authors: Matthias R
authors: MR
authors: Benz
authors: Damian
authors: D
authors: Wild
authors: Michael
authors: M
authors: Mix
authors: Rebecca A
authors: RA
authors: Dumont
authors: Dean
authors: D
authors: Campbell
authors: Jochen
authors: J
authors: Seufert
authors: Thorsten
authors: T
authors: Wiech
authors: Jochen
authors: J
authors: Rössler
authors: Wolfgang A
authors: WA
authors: Weber
authors: Hartmut P H
authors: HP
authors: Neumann
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001692:Biological Transport; D002648:Child; D004295:Dihydroxyphenylalanine / Q000031:analogs & derivatives* / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010235:Paraganglioma / Q000000981:diagnostic imaging* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D010673:Pheochromocytoma / Q000000981:diagnostic imaging* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D049268:Positron-Emission Tomography; D012189:Retrospective Studies; D047368:Tumor Burden; D055815:Young Adult
chemical_list: C043437:fluorodopa F 18; D004295:Dihydroxyphenylalanine