Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management

• Published in: Neurosurgery Vol. 56; no. 6; p. 1215
• Main Authors: Catapano, Domenico, Muscarella, Lucia Anna, Guarnieri, Vito, Zelante, Leopoldo, D'Angelo, Vincenzo Antonio, D'Agruma, Leonardo
• Format: Journal Article
• Language: English
• Published: United States 01.06.2005
• Subjects: Adult; Aged; Arginine - genetics; Central Nervous System Neoplasms - diagnosis; Central Nervous System Neoplasms - genetics; DNA Mutational Analysis - methods; Exons; Female; Hemangioblastoma - diagnosis; Hemangioblastoma - genetics; Humans; Leucine - genetics; Magnetic Resonance Imaging - methods; Male; Middle Aged; Molecular Biology; Mutation, Missense; Proline - genetics; Retrospective Studies; Tryptophan - genetics; von Hippel-Lindau Disease - genetics; Von Hippel-Lindau Tumor Suppressor Protein - genetics
• ISSN: 1524-4040
• DOI: 10.1227/01.neu.0000159646.15026.d6

Hemangioblastomas of the central nervous system (CNS) are benign neoplasms that may occur sporadically or in association with von Hippel-Lindau (VHL) disease. The proportion of primary symptomatic hemangioblastomas associated with VHL disease is estimated to be from 10 to 40%, but it seems to be und...