title: 18F-FDG PET/CT as a predictor of hereditary head and neck paragangliomas.
abstract: BACKGROUND
  Hereditary head and neck paragangliomas (HNPGLs) account for at least 35% of all HNPGLs, most commonly due to germline mutations in SDHx susceptibility genes. Several studies about sympathetic paragangliomas have shown that (18)F-FDG PET/CT was not only able to detect and localize tumours, but also to characterize tumours ((18)F-FDG uptake being linked to SDHx mutations). However, the data concerning (18)F-FDG uptake specifically in HNPGLs have not been addressed. The aim of this study was to evaluate the relationship between (18)F-FDG uptake and the SDHx mutation status in HNPGL patients.
  
  
  METHODS
  (18)F-FDG PET/CT from sixty HNPGL patients were evaluated. For all lesions, we measured the maximum standardized uptake values (SUVmax), and the uptake ratio defined as HNPGL-SUVmax over pulmonary artery trunk SUVmean (SUVratio). Tumour sizes were assessed on radiological studies.
  
  
  RESULTS
  Sixty patients (53.3% with SDHx mutations) were evaluated for a total of 106 HNPGLs. HNPGLs-SUVmax and SUVratio were highly dispersed (1.2-30.5 and 1.0-17.0, respectively). The HNPGL (18)F-FDG uptake was significantly higher in SDHx versus sporadic tumours on both univariate and multivariate analysis (P = 0.002). We developed two models for calculating the probability of a germline SDHx mutation. The first one, based on a per-lesion analysis, had an accuracy of 75.5%. The second model, based on a per-patient analysis, had an accuracy of 80.0%.
  
  
  CONCLUSIONS
  (18)F-FDG uptake in HNPGL is strongly dependent on patient genotype. Thus, the degree of (18)F-FDG uptake in these tumours can be used clinically to help identify patients in whom SDHx mutations should be suspected.
authors.affiliation: Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Elise M
authors.initials: EM
authors.lastname: Blanchet
authors.affiliation: Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Gabriel
authors.affiliation: Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Victoria
authors.initials: V
authors.lastname: Martucci
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, La Timone University Hospital, Aix-Marseille University, Marseille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Fakhry
authors.affiliation: Nuclear Medicine Department, Radiology and Imaging Sciences, Warren Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland, 20892 USA.
authors.forename: Clara C
authors.initials: CC
authors.lastname: Chen
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, North Hospital, Aix-Marseille University, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Deveze
authors.affiliation: PET Department, Warren Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland, 20892 USA.
authors.forename: Corina
authors.initials: C
authors.lastname: Millo
authors.affiliation: Laboratory of Biochemistry and Molecular Biology, Conception Hospital, Aix-Marseille University, Marseille, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Barlier
authors.affiliation: Laboratory of Biochemistry and Molecular Biology, Conception Hospital, Aix-Marseille University, Marseille, France.
authors.forename: Morgane
authors.initials: M
authors.lastname: Pertuit
authors.affiliation: Department of Public Health, Aix-Marseille University, Marseille, France.
authors.forename: Anderson
authors.initials: A
authors.lastname: Loundou
authors.affiliation: Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Karel
authors.initials: K
authors.lastname: Pacak
authors.affiliation: Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France.
authors.forename: David
authors.initials: D
authors.lastname: Taïeb
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002648:Child; D005260:Female; D019788:Fluorodeoxyglucose F18; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics; D064847:Multimodal Imaging; D015999:Multivariate Analysis; D009386:Neoplastic Syndromes, Hereditary / Q000000981:diagnostic imaging* / Q000235:genetics; D010236:Paraganglioma, Extra-Adrenal / Q000000981:diagnostic imaging* / Q000235:genetics; D049268:Positron-Emission Tomography; D019275:Radiopharmaceuticals; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C499330:MAX protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D019275:Radiopharmaceuticals; C543341:SDHAF2 protein, human; C108096:SDHC protein, human; C491545:SDHD protein, human; C548370:TMEM127 protein, human; D019788:Fluorodeoxyglucose F18; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human
keywords: Fluorodeoxyglucose; PET-CT; genetics; head and neck paraganglioma; hereditary cancer; radiopharmaceuticals