Cargando…
Head and neck paragangliomas: clinical and molecular genetic classification
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 yea...
Autores principales: | , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328838/ https://www.ncbi.nlm.nih.gov/pubmed/22584701 http://dx.doi.org/10.6061/clinics/2012(Sup01)05 |
_version_ | 1782229781066022912 |
---|---|
author | 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 Patocs, Attila Wohllk, Nelson Malekpour, Mahdi Boedeker, Carsten C Neumann, Hartmut PH |
author_facet | 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 Patocs, Attila Wohllk, Nelson Malekpour, Mahdi Boedeker, Carsten C Neumann, Hartmut PH |
author_sort | Offergeld, Christian |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3328838 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo |
record_format | MEDLINE/PubMed |
spelling | pubmed-33288382012-04-19 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 Patocs, Attila Wohllk, Nelson Malekpour, Mahdi Boedeker, Carsten C Neumann, Hartmut PH Clinics (Sao Paulo) Review 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. Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo 2012-04 /pmc/articles/PMC3328838/ /pubmed/22584701 http://dx.doi.org/10.6061/clinics/2012(Sup01)05 Text en Copyright © 2012 Hospital das Clínicas da FMUSP http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review 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 Patocs, Attila Wohllk, Nelson Malekpour, Mahdi Boedeker, Carsten C Neumann, Hartmut PH Head and neck paragangliomas: clinical and molecular genetic classification |
title | Head and neck paragangliomas: clinical and molecular genetic classification |
title_full | Head and neck paragangliomas: clinical and molecular genetic classification |
title_fullStr | Head and neck paragangliomas: clinical and molecular genetic classification |
title_full_unstemmed | Head and neck paragangliomas: clinical and molecular genetic classification |
title_short | Head and neck paragangliomas: clinical and molecular genetic classification |
title_sort | head and neck paragangliomas: clinical and molecular genetic classification |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328838/ https://www.ncbi.nlm.nih.gov/pubmed/22584701 http://dx.doi.org/10.6061/clinics/2012(Sup01)05 |
work_keys_str_mv | AT offergeldchristian headandneckparagangliomasclinicalandmoleculargeneticclassification AT brasechristoph headandneckparagangliomasclinicalandmoleculargeneticclassification AT yaremchuksvetlana headandneckparagangliomasclinicalandmoleculargeneticclassification AT maderirina headandneckparagangliomasclinicalandmoleculargeneticclassification AT rischkehanschristian headandneckparagangliomasclinicalandmoleculargeneticclassification AT glaskersven headandneckparagangliomasclinicalandmoleculargeneticclassification AT schmidkurtw headandneckparagangliomasclinicalandmoleculargeneticclassification AT wiechthorsten headandneckparagangliomasclinicalandmoleculargeneticclassification AT preusssimonf headandneckparagangliomasclinicalandmoleculargeneticclassification AT suarezcarlos headandneckparagangliomasclinicalandmoleculargeneticclassification AT kopectomasz headandneckparagangliomasclinicalandmoleculargeneticclassification AT patocsattila headandneckparagangliomasclinicalandmoleculargeneticclassification AT wohllknelson headandneckparagangliomasclinicalandmoleculargeneticclassification AT malekpourmahdi headandneckparagangliomasclinicalandmoleculargeneticclassification AT boedekercarstenc headandneckparagangliomasclinicalandmoleculargeneticclassification AT neumannhartmutph headandneckparagangliomasclinicalandmoleculargeneticclassification |