Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment

Acta Otolaryngol. 2021 Mar;141(3):303-308. doi: 10.1080/00016489.2020.1845397. Epub 2020 Dec 15.

Abstract

Background: Head and neck paragangliomas (HNPG) are rare and predominantly benign tumours, originating from the neuroendocrine paraganglionic system. A considerable proportion of HNPGs are hereditary, depending on the population.

Aims/objectives: The purpose of this study was to estimate the rate of hereditary HNPGs in a Scandinavian (Norwegian) population, report long-term experience with HNPGs and offer all patients diagnosed an updated follow-up, with emphasis on identifying hereditary HNPGs through genetic screening and multifocality by 18 F-2-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT).

Material and methods: Our study was a partly retrospective and partly prospective cohort study. It included patients with HNPG diagnosed at Oslo University Hospital (OUH), Rikshospitalet between 1990 and 2017. The patients underwent genetic testing, 18F-FDG PET/CT and measurement of catecholamines and meta-nephrines in the plasma. All resection specimens and biopsies were subjected to histopathological review. The genetic testing protocol consisted of testing for mutations in the following genes; SDHD, SDHB, SDHC, VHL and RET.

Results: Sixty-three patients were included in the study with a median age of 49 years (range 12 - 80). Cranial nerve dysfunction was present upon diagnosis in 13%, and 14% had multifocal paraganglioma (PG) disease. Fifty-six patients (89% of all the patients) underwent genetic testing, and 29% of these had a PG related mutation. Seven of the eight patients (88%) with multifocal PGs who underwent genetic testing had a mutation. In two of the patients, the 18F-FDG PET/CT revealed unknown and subclinical multifocality.

Conclusions and significance: This is the first study with systematic genetic workup and PET/CT imaging in Scandinavia of HNPG patients. The mutation rate was within the lower range reported in the literature with respect to HNPGs. Combining genetic testing and PET/CT imaging in the diagnostic workup of HNPGs is valuable.

Keywords: Head and neck paraganglioma; PET; Scandinavia; genetics; multifocality.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Female
  • Fluorodeoxyglucose F18
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / epidemiology
  • Genetic Testing
  • Head and Neck Neoplasms / diagnostic imaging
  • Head and Neck Neoplasms / epidemiology
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / therapy
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Norway / epidemiology
  • Paraganglioma / diagnostic imaging
  • Paraganglioma / epidemiology
  • Paraganglioma / genetics*
  • Paraganglioma / therapy
  • Positron Emission Tomography Computed Tomography
  • Prospective Studies
  • Retrospective Studies
  • Young Adult

Substances

  • Fluorodeoxyglucose F18