Richard S, Campello C, Taillandier L, Parker F, Resche F
Département de Néphrologie, Hôpital Necker, Paris, France.
J Intern Med. 1998 Jun;243(6):547-53. doi: 10.1046/j.1365-2796.1998.00337.x.
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.
中枢神经系统（CNS）血管母细胞瘤是冯·希佩尔-林道（VHL）病最具特征性的病变和最常见的临床表现，并且具有明显的多发倾向。其好发部位是后颅窝（小脑++）和脊髓。血管母细胞瘤可导致颅内压升高和/或神经功能缺损，仍是VHL病发病和死亡的主要原因。有症状的血管母细胞瘤的治疗仍然是神经外科手术，且常常是急诊手术。血管母细胞瘤似乎比先前报道的更常与VHL病相关，这表明所有“散发性”血管母细胞瘤患者都应接受检查以寻找VHL病的证据。从根本角度来看，血管母细胞瘤是一种具有双重分化（血管和细胞分化）的良性肿瘤实体。VHL基因两个拷贝的突变失活在血管母细胞瘤的发病机制中起主要作用。最近在这些肿瘤中已证实血管内皮生长因子（VEGF）及其受体的过度表达，这增加了血管母细胞起源的可能性，并且鉴于VHL基因直接参与VEGF的负调控，这一点非常令人感兴趣。
