VHL(Von Hippel-Lindau)综合征是VHL肿瘤抑制基因失活、突变引起的以家族性血管母细胞瘤为特征的常染色体显性遗传性肿瘤综合征,具有较高的外显率及多种表达方式,早期诊断困难。虽有相应临床诊断标准,但基因检测是诊断VHL综合征的金标准。突变基因检测诊断VHL综合征明显优于基于临床表现的诊断。目前手术切 Von Hippel-Lindau syndrome is an autosomal dominant hereditary tumor syndrome characterized by familial hemangioblastoma caused by inactivation and mutation of VHL tumor suppressor gene, which has high penetrance and multiple Expressions, early diagnosis difficult. Although the corresponding clinical diagnostic criteria, but genetic testing is the gold standard for diagnosis of VHL syndrome. Mutational gene testing to diagnose VHL syndrome is significantly superior to that based on clinical manifestations. The current surgical cut