18F-FDG PET/CT as a predictor of hereditary head and neck paragangliomas

Eur J Clin Invest. 2014;44(3):325-332. doi: 10.1111/eci.12239.

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.

Keywords: Fluorodeoxyglucose; PET-CT; genetics; head and neck paraganglioma; hereditary cancer; radiopharmaceuticals.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
  • Child
  • Female
  • Fluorodeoxyglucose F18
  • Genetic Predisposition to Disease
  • Genotype
  • Head and Neck Neoplasms / diagnostic imaging*
  • Head and Neck Neoplasms / genetics
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Mitochondrial Proteins / genetics
  • Multimodal Imaging
  • Multivariate Analysis
  • Neoplastic Syndromes, Hereditary / diagnostic imaging*
  • Neoplastic Syndromes, Hereditary / genetics
  • Paraganglioma, Extra-Adrenal / diagnostic imaging*
  • Paraganglioma, Extra-Adrenal / genetics
  • Positron-Emission Tomography
  • Radiopharmaceuticals
  • Succinate Dehydrogenase / genetics*
  • Tomography, X-Ray Computed
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics
  • Young Adult

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • MAX protein, human
  • Membrane Proteins
  • Mitochondrial Proteins
  • Radiopharmaceuticals
  • SDHAF2 protein, human
  • SDHC protein, human
  • SDHD protein, human
  • TMEM127 protein, human
  • Fluorodeoxyglucose F18
  • SDHB protein, human
  • Succinate Dehydrogenase
  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human