Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2

Carsten C. Boedeker, Zoran Erlic, Stéphane Richard, Udo Kontny, Anne Paule Gimenez-Roqueplo, Alberto Cascon, Mercedes Robledo, José M. De Campos, Francien H. Van Nederveen, Ronald R. De Krijger, Nelly Burnichon, José Gaal, Martin A. Walter, Kirsten Reschke, Thorsten Wiech, Johannes Weber, Klaus Rückauer, Pierre Francois Plouin, Vincent Darrouzet, Sophie GiraudCharis Eng, Hartmut P.H. Neumann

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82 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)1938-1944
Aantal pagina's7
TijdschriftJournal of Clinical Endocrinology and Metabolism
Volume94
Nummer van het tijdschrift6
DOI's
StatusGepubliceerd - jun. 2009
Extern gepubliceerdJa

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