Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome

José Gaal, Francien H. Van Nederveen, Zoran Erlic, Esther Korpershoek, Rogier Oldenburg, Carsten C. Boedeker, Udo Kontny, Hartmut P. Neumann, Winand N.M. Dinjens, Ronald R. De Krijger

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

39 Citaten (Scopus)


Context: Von Hippel-Lindau (VHL) disease, caused by germline mutations in the VHL gene, is a hereditary tumor syndrome manifested by hemangioblastomas, clear cell renal cell carcinomas, and pheochromocytomas. In addition, a multitude of other rare tumors, including parasympathetic paragangliomas, can occur and even be the sole manifestation of VHL disease. The VHL gene is a bona fide tumor suppressor gene with biallelic inactivation contributing to tumor formation. However, in parasympathetic paragangliomas occurring in VHL disease, biallelic inactivation of the VHL gene has not been demonstrated to date. Design: The head and neck paragangliomas of two VHL patients were analyzed for mutations by direct sequencing of the VHL gene. In addition loss of heterozygosity analysis was performed for three microsatellite loci near the VHL gene. To rule out other underlying genetic causes of the parasympathetic paragangliomas, mutation analysis of the SDHB, SDHC, and SDHD genes was also performed. Results: Apart from germline VHL mutations, no additional mutations were found in the paraganglioma-related tumor suppressor genes SDHB, SDHC, and SDHD. Analysis of paraganglioma tissue revealed loss of the VHL wild-type allele in both tumors, indicating that in these tumors biallelic VHL gene inactivation occurred. Conclusions: These findings indicate that parasympathetic paragangliomas in VHL disease, although rare, are part of the syndrome and related to VHL gene inactivation. Clinicians should be aware of the potential occurrence of parasympathetic paragangliomas in VHL disease.

Originele taal-2Engels
Pagina's (van-tot)4367-4371
Aantal pagina's5
TijdschriftJournal of Clinical Endocrinology and Metabolism
Nummer van het tijdschrift11
StatusGepubliceerd - nov. 2009
Extern gepubliceerdJa


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