Head and neck paragangliomas: clinical and molecular genetic classification

Authors

  • Christian Offergeld Albert-Ludwigs-University; University Medical Center; Department of Otorhinolaryngology
  • Christoph Brase , Friedrich-Alexander-University of Erlangen-Nürnberg; Department of Otorhinolarnygology
  • Svetlana Yaremchuk Academy of Medical Science; Institute of Otolaryngology
  • Irina Mader Albert-Ludwigs-University; University Medical Center; Department of Neuroradiology
  • Hans Christian Rischke Albert-Ludwigs-University; University Medical Center; Department of Nuclear Medicine
  • Sven Gläsker AlbertLudwigs-University; University Medical Center; Department of Neurosurgery
  • Kurt W Schmid University of Duisburg-Essen; University Hospital of Essen; Institute of Pathology and Neuropathology
  • Thorsten Wiech Albert-Ludwigs-University; University Hospital Freiburg; Institute of Pathology
  • Simon F Preuss University of Cologne; Department of Otorhinolarnygology
  • Carlos Suárez Hospital Universitario Central de Asturias; Department of Otolaryngology
  • Tomasz Kopć Poznan University of Mediacal Sciences; Department of Otolaryngology
  • Attila Patocs Semmelweis-University; Hungarian Academy of Sciences; Molecular Medicine Research
  • Nelson Wohllk University of Chile; Hospital del Salvador; Department of Endocrinology
  • Mahdi Malekpour Vanderbilt University Medical Center; Department of Medicine
  • Carsten C Boedeker Albert-Ludwigs-University; University Medical Center; Department of Otorhinolaryngology
  • Hartmut PH Neumann Albert-Ludwigs-Albert-Ludwigs-University; University Medical Center; Department of Nephrology and General Medicine

DOI:

https://doi.org/10.6061/clinics/2012(Sup01)05

Keywords:

Paraganglioma, Susceptibility Genes, Shamblin Classification, Fisch Classification

Abstract

Head and neck paragangliomas are tumors arising from specialized neural crest cells. Prominent locations are the carotid body along with the vagal, jugular, and tympanic glomus. Head and neck paragangliomas are slowly growing tumors, with some carotid body tumors being reported to exist for many years as a painless lateral mass on the neck. Symptoms depend on the specific locations. In contrast to paraganglial tumors of the adrenals, abdomen and thorax, head and neck paragangliomas seldom release catecholamines and are hence rarely vasoactive. Petrous bone, jugular, and tympanic head and neck paragangliomas may cause hearing loss. The internationally accepted clinical classifications for carotid body tumors are based on the Shamblin Class I-III stages, which correspond to postoperative permanent side effects. For petrous-bone paragangliomas in the head and neck, the Fisch classification is used. Regarding the molecular genetics, head and neck paragangliomas have been associated with nine susceptibility genes: NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2 (SDH5), and TMEM127. Hereditary HNPs are mostly caused by mutations of the SDHD gene, but SDHB and SDHC mutations are not uncommon in such patients. Head and neck paragangliomas are rarely associated with mutations of VHL, RET, or NF1. The research on SDHA, SDHAF2 and TMEM127 is ongoing. Multiple head and neck paragangliomas are common in patients with SDHD mutations, while malignant head and neck paraganglioma is mostly seen in patients with SDHB mutations. The treatment of choice is surgical resection. Good postoperative results can be expected in carotid body tumors of Shamblin Class I and II, whereas operations on other carotid body tumors and other head and neck paragangliomas frequently result in deficits of the cranial nerves adjacent to the tumors. Slow growth and the tendency of hereditary head and neck paragangliomas to be multifocal may justify less aggressive treatment strategies.

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Published

2012-01-01

Issue

Section

Reviews

How to Cite

Head and neck paragangliomas: clinical and molecular genetic classification. (2012). Clinics, 67(supl.1), 19-28. https://doi.org/10.6061/clinics/2012(Sup01)05