Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease. Individuals with haemangioblastoma and underlying VHL disease present, on average, at a younger age and frequently have a personal or family history of VHL disease-related tumours (e.g., retinal or central nervous system (CNS) haemangioblastomas, renal cell carcinoma, phaeochromocytoma). However, a subset present an apparently sporadic haemangioblastoma without other features of VHL disease. To detect such individuals, it has been recommended that genetic testing and clinical/radiological assessment for VHL disease should be offered to patients with a haemangioblastoma. To assess “real-world” clinical practice, we undertook a national survey of clinical genetics centres. All participating centres responded that they would offer genetic testing and a comprehensive assessment (ophthalmological examination and CNS and abdominal imaging) to a patient presenting with a CNS haemangioblastoma. However, for individuals who tested negative, there was variability in practice with regard to the need for continued follow-up. We then reviewed the results of follow-up surveillance in 91 such individuals seen at four centres. The risk of developing a potential VHL-related tumour (haemangioblastoma or RCC) was estimated at 10.8% at 10 years follow-up. The risks of developing a recurrent haemangioblastoma were higher in those who presented <40 years of age. In the light of these and previous findings, we propose an age-stratified protocol for surveillance of VHL-related tumours in individuals with apparently isolated haemangioblastoma.

中文翻译：

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散发性中枢神经系统血管母细胞瘤的调查和处理以提供 Von Hippel-Lindau 病的证据

血管母细胞瘤是一种罕见的高度血管化的肿瘤，通常发生在小脑、脑干和脊髓。多达三分之一的血管母细胞瘤患者将患有 von Hippel-Lindau (VHL) 病。患有血管母细胞瘤和潜在 VHL 疾病的个体平均年龄较小，并且经常有 VHL 疾病相关肿瘤（例如，视网膜或中枢神经系统 (CNS) 血管母细胞瘤、肾细胞癌、嗜铬细胞瘤）的个人或家族史。然而，一个子集呈现出明显散发性的血管母细胞瘤，没有其他 VHL 疾病的特征。为了检测这些个体，建议应向血管母细胞瘤患者提供 VHL 疾病的基因检测和临床/放射学评估。为了评估“真实世界”的临床实践，我们对临床遗传学中心进行了全国调查。所有参与中心都回应说，他们将为出现 CNS 血管母细胞瘤的患者提供基因检测和综合评估（眼科检查和 CNS 和腹部成像）。然而，对于检测结果为阴性的个体，在需要继续随访方面在实践中存在差异。然后，我们回顾了在四个中心看到的 91 名此类个体的后续监测结果。在 10 年的随访中，发生潜在 VHL 相关肿瘤（血管母细胞瘤或 RCC）的风险估计为 10.8%。年龄小于 40 岁的人发生复发性血管母细胞瘤的风险更高。鉴于这些和​​以前的发现，