Open AccessParasympathetic Paragangliomas Are Part of the Von Hippel-Lindau Syndrome
Author(s) -
José Gaal,
Francien H. van Nederveen,
Zoran Erlic,
Esther Korpershoek,
Rogier A. Oldenburg,
Carsten C. Boedeker,
Udo Kontny,
Hartmut P.H. Neumann,
Winand N.M. Dinjens,
Ronald R. de Krijger
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-1479
Subject(s) - von hippel–lindau disease , tumor suppressor gene , context (archaeology) , pheochromocytoma , germline mutation , disease , germline , cancer research , medicine , renal cell carcinoma , gene , pathology , mutation , biology , genetics , carcinogenesis , paleontology
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.
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