Von Hippel–Lindau Disease: Molecular Pathological Basis, Clinical Criteria, Genetic Testing, Clinical Features of Tumors and Treatment

Abstract excerpt

von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that is associated with various tumors and cysts in the central nervous system (CNS) and other visceral organs. Inactivation of the VHL tumor suppressor protein with loss of function of the VHL protein, and Elongin B, C complex results in a dysfunction of the ubquitination of hypoxia-inducible factor, which is an important step in the development...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal and Paraganglionic Tumors
• Share to Cancer, Hypoxia, and Metabolism
• Share to Glioma Diagnosis and Treatment