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ABSTRACT: Background
Head and neck paragangliomas (HNPs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC, or SDHD (SDHx) genes. Heritable non-SDHx HNP might occur in von Hippel-Lindau disease (VHL, VHL gene), multiple endocrine neoplasia type 2 (MEN2, RET gene), and neurofibromatosis type 1 (NF1, NF1 gene). Reports of non-SDHx HNP presentations are scarce and guidance for genetic testing nonexistent.Patients and methods
An international consortium registered patients with HNPs and performed mutation analyses of the SDHx, VHL, and RET genes. Those with SDHx germline mutations were excluded for purposes of this study. Personal and family histories were evaluated for paraganglial tumors, for the major tumor manifestations, and for family history of VHL, MEN2, or NF1.Results
Twelve patients were found to have hereditary non-SDHx HNPs of a total of 809 HNP and 2084 VHL registrants, 11 in the setting of germline VHL mutations and one of a RET mutation. The prevalence of hereditary HNP is five in 1000 VHL patients and nine in 1000 non-SDHx HNP patients. Comprehensive literature review revealed previous reports of HNPs in five VHL, two MEN2, and one NF1 patient. Overall, 11 here presented HNP cases, and four previously reported VHL-HNPs had lesions characteristic for VHL and/or a positive family history for VHL.Conclusions
Our observations provide evidence that molecular genetic testing for VHL or RET germline mutations in patients with HNP should be done only if personal and/or family history shows evidence for one of these syndromes.
SUBMITTER: Boedeker CC
PROVIDER: S-EPMC2690424 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Boedeker Carsten C CC Erlic Zoran Z Richard Stéphane S Kontny Udo U Gimenez-Roqueplo Anne-Paule AP Cascon Alberto A Robledo Mercedes M de Campos José M JM van Nederveen Francien H FH de Krijger Ronald R RR Burnichon Nelly N Gaal José J Walter Martin A MA Reschke Kirsten K Wiech Thorsten T Weber Johannes J Rückauer Klaus K Plouin Pierre Francois PF Darrouzet Vincent V Giraud Sophie S Eng Charis C Neumann Hartmut P H HP
The Journal of clinical endocrinology and metabolism 20090331 6
<h4>Background</h4>Head and neck paragangliomas (HNPs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC, or SDHD (SDHx) genes. Heritable non-SDHx HNP might occur in von Hippel-Lindau disease (VHL, VHL gene), multiple endocrine neoplasia type 2 (MEN2, RET gene), and neurofibromatosis type 1 (NF1, NF1 gene). Reports of non-SDHx HNP presentations are scarce and guidance for genetic testing nonexistent.<h4>Patients and methods</h4>An ...[more]