Publication year
2014Source
Head and Neck : Journal for the Sciences and Specialties of the Head and Neck, 36, 6, (2014), pp. 907-16ISSN
Publication type
Article / Letter to editor
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Organization
Otorhinolaryngology
Journal title
Head and Neck : Journal for the Sciences and Specialties of the Head and Neck
Volume
vol. 36
Issue
iss. 6
Page start
p. 907
Page end
p. 16
Subject
Radboudumc 12: Sensory disorders RIHS: Radboud Institute for Health Sciences; Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health SciencesAbstract
BACKGROUND: The purpose of this study was to give an overview on hereditary syndromes associated with head and neck paragangliomas (HNPGs). METHODS: Our methods were the review and discussion of the pertinent literature. RESULTS: About one third of all patients with HNPGs are carriers of germline mutations. Hereditary HNPGs have been described in association with mutations of 10 different genes. Mutations of the genes succinate dehydrogenase subunit D (SDHD), succinate dehydrogenase complex assembly factor 2 gene (SDHAF2), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit B (SDHB) are the cause of paraganglioma syndromes (PGLs) 1, 2, 3, and 4. Succinate dehydrogenase subunit A (SDHA), von Hippel-Lindau (VHL), and transmembrane protein 127 (TMEM127) gene mutations also harbor the risk for HNPG development. HNPGs in patients with rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and MYC-associated factor X (MAX) gene mutations have been described very infrequently. CONCLUSION: All patients with HNPGs should be offered a molecular genetic screening. This screening may usually be restricted to mutations of the genes SDHD, SDHB, and SDHC. Certain clinical parameters can help to set up the order in which those genes should be tested. (c) 2013 Wiley Periodicals, Inc. Head Neck 36: 907-916, 2014.
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- Faculty of Medical Sciences [92892]
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