Head and neck paragangliomas

Clinical and molecular genetic classification

Christian Offergeld, Christoph Brase, Svetlana Yaremchuk, Irina Mader, Hans Christian Rischke, Sven Gläsker, Kurt W. Schmid, Thorsten Wiech, Simon F. Preuss, Carlos Suárez, Tomasz Kopeć, A. Patócs, Nelson Wohllk, Mahdi Malekpour, Carsten C. Boedeker, Hartmut P H Neumann

Research output: Contribution to journalArticle

63 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)19-28
Number of pages10
JournalClinics
Volume67
Issue numberSUPPLEMENT
DOIs
Publication statusPublished - 2012

Fingerprint

Paraganglioma
Molecular Biology
Neck
Head
Carotid Body Tumor
Mutation
Petrous Bone
Neoplasms
Neurofibromatosis 1 Genes
Carotid Body
Cranial Nerves
Neural Crest
Hearing Loss
Abdomen
Catecholamines

Keywords

  • Fisch Classification
  • Paraganglioma
  • Shamblin Classification
  • Susceptibility Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Offergeld, C., Brase, C., Yaremchuk, S., Mader, I., Rischke, H. C., Gläsker, S., ... Neumann, H. P. H. (2012). Head and neck paragangliomas: Clinical and molecular genetic classification. Clinics, 67(SUPPLEMENT), 19-28. https://doi.org/10.6061/clinics/2012(Sup01)05

Head and neck paragangliomas : Clinical and molecular genetic classification. / Offergeld, Christian; Brase, Christoph; Yaremchuk, Svetlana; Mader, Irina; Rischke, Hans Christian; Gläsker, Sven; Schmid, Kurt W.; Wiech, Thorsten; Preuss, Simon F.; Suárez, Carlos; Kopeć, Tomasz; Patócs, A.; Wohllk, Nelson; Malekpour, Mahdi; Boedeker, Carsten C.; Neumann, Hartmut P H.

In: Clinics, Vol. 67, No. SUPPLEMENT, 2012, p. 19-28.

Research output: Contribution to journalArticle

Offergeld, C, Brase, C, Yaremchuk, S, Mader, I, Rischke, HC, Gläsker, S, Schmid, KW, Wiech, T, Preuss, SF, Suárez, C, Kopeć, T, Patócs, A, Wohllk, N, Malekpour, M, Boedeker, CC & Neumann, HPH 2012, 'Head and neck paragangliomas: Clinical and molecular genetic classification', Clinics, vol. 67, no. SUPPLEMENT, pp. 19-28. https://doi.org/10.6061/clinics/2012(Sup01)05
Offergeld C, Brase C, Yaremchuk S, Mader I, Rischke HC, Gläsker S et al. Head and neck paragangliomas: Clinical and molecular genetic classification. Clinics. 2012;67(SUPPLEMENT):19-28. https://doi.org/10.6061/clinics/2012(Sup01)05
Offergeld, Christian ; Brase, Christoph ; Yaremchuk, Svetlana ; Mader, Irina ; Rischke, Hans Christian ; Gläsker, Sven ; Schmid, Kurt W. ; Wiech, Thorsten ; Preuss, Simon F. ; Suárez, Carlos ; Kopeć, Tomasz ; Patócs, A. ; Wohllk, Nelson ; Malekpour, Mahdi ; Boedeker, Carsten C. ; Neumann, Hartmut P H. / Head and neck paragangliomas : Clinical and molecular genetic classification. In: Clinics. 2012 ; Vol. 67, No. SUPPLEMENT. pp. 19-28.
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