Most patients with isolated hemangioblastomas of the cerebellum do not have VHL.
大多数孤立性血管母细胞瘤并没有VHL疾病。
Objective To evaluate the imaging manifestation of von Hippel Lindau (VHL) disease.
目的评价冯·希佩尔·林道病的影像学表现。
The mutations of VHL gene were irrespective of the age and pathological grade and stage of patients.
结论：国人非遗传性肾透明细胞癌中存在VHL基因的突变，且与患者年龄，肿瘤分期、分级无相关性。
The VHL gene may be useful as a marker gene for the diagnosis of RCC and as a target gene for molecular therapy.
VHL基因可作为临床诊断指标，并可望成为肾透明细胞癌基因治疗的重要目的基因。
Conclusion The VHL gene may frequently mutate in Chinese patients with primary sporadic renal clear cell carcinoma.
结论国人原发性散发性肾透明细胞癌中存在VHL基因的突变。
Mutation of VHL gene from tumor tissue was detected from tumor tissue by polymerase chain reaction (PCR) and direct sequencing.
采用单链聚合酶链反应(PCR)和测序法检测肿瘤组织中VHL基因的突变情况。
Results VHL gene mutation was detected in 10(35.7%) CCRCC tumor samples. There was no mutation detected in all normal kidney tissues.
结果远离肿瘤的正常肾组织中未检测到VHL基因的突变，10例（35·7%）癌组织标本中存在VHL基因的突变。
Only 5%-30% of all cerebellar hemangioblastomas are attributed to VHL disease, whereas 80% of spinal cord hemangioblastomas occur with the disease.
只有5% - 30%的小脑血管母细胞瘤是归因于VHL病，但是80%的脊髓血管母细胞瘤发生在VHL病中。
Objective To investigate the mutation of Von Hippel-Ldau(VHL)tumor suppressor gene in peatients with primary sporadic human renal cell carcinoma(RCC).
目的探讨国人原发性散发性肾透明细胞癌中VHL抑癌基因突变及其意义。
CONCLUSIONS: Review of the literature confirms that cranial nerve hemangioblastomas are very rare lesions that occur sporadically or in association with VHL disease.
结论∶文献回顾证实脑神经成血管细胞瘤是极为罕见的病变，散发或与VHL病并发。
Conclusion VHL disease is a heritance family multi systems neoplasm syndrome. Familiarity with the imaging features of VHL will be helpful to the accurate diagnosis.
结论VHL病为家族性遗传性多系统肿瘤综合征，熟悉其影像学表现有利于正确诊断。
Methods: The hypermethylation was examined by methyl sensitive restrictive DNA endoenzyme analysis in 34 cases of angioreticuloma and the VHL gene mutations detected by PCR SSCP analysis.
方法：采用PCRSSCP法检测血管网织细胞瘤中VHL基因的突变率及甲基化，敏感限制性内切酶消化法检测血管网织细胞瘤中VHL基因的异常甲基化率。
Methods: The hypermethylation was examined by methyl sensitive restrictive DNA endoenzyme analysis in 34 cases of angioreticuloma and the VHL gene mutations detected by PCR SSCP analysis.
方法：采用PCRSSCP法检测血管网织细胞瘤中VHL基因的突变率及甲基化，敏感限制性内切酶消化法检测血管网织细胞瘤中VHL基因的异常甲基化率。
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