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Haemangioblastoma of the central nervous system in von Hippel–Lindau disease
Author(s) -
Stéphane Richard,
Chantal Campello,
Luc Taillandier,
Fabrice Parker,
F Resche
Publication year - 1998
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1046/j.1365-2796.1998.00337.x
Subject(s) - hemangioblastoma , medicine , pathology , central nervous system , central nervous system disease , vascular disease , pathogenesis , surgery
Richard S, Campello C, Taillandier L, Parker F, Resche F (Hôpital Necker, Paris, CHU Hôpital Caremeau, Nîmes, CHU Hôpital Saint‐Julien, Nancy, CHU Hôpital de Bic tre, Le Kremlin‐Bic tre, Hôpital Laennec, Nantes, France). Haemangioblastoma of the central nervous system in von Hippel–Lindau disease (Minisymposium: MEN & VHL). J Intern Med 1998; 243 : 547–53. Haemangioblastoma of the central nervous system (CNS) is the most characteristic lesion and the most common presenting manifestation of von Hippel–Lindau (VHL) disease and has a striking tendency to multiple occurrence. Its sites of predilection are the posterior fossa (cerebellum++), and the spinal cord. Haemangioblastoma may cause increased intracranial pressure and/or neurological deficits and remains the main cause of morbidity and mortality in VHL. Treatment of symptomatic haemangioblastoma remains neurosurgical and is often in emergency. Haemangioblastoma appears to be more commonly associated with VHL than previously reported and suggests that all patients with ‘sporadic’ haemangioblastoma should be investigated for evidence of VHL disease. From a fundamental point of view, haemangioblastoma is a benign neoplastic entity with a double, vascular and cellular differentiation. Mutational inactivation of both copies of the VHL gene plays a major role in the pathogenesis of haemangioblastoma. Over‐expression of vascular endothelial growth factor (VEGF) and VEGF‐receptors has been recently demonstrated in these tumours, raising the possibility of angioblastic origin, and is of very great interest in view of the direct implication of the VHL gene in negative regulation of VEGF.