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von Hippel-Lindau综合征以常染色体显性方式遗传,常伴有多种良恶性肿瘤。其特征是中枢神经系统成血管细胞瘤,内脏器官和视网膜多发性血管瘤,肾细胞癌(RCC)以及嗜骼细胞瘤。尸体解剖发现大约30%的受累个体有RCC。这里作者介绍一个24岁的von Hippel-Lindau综合征肾细胞癌的染色体改变。患者为女性,由于视网膜多发性血管瘤摘除一侧眼球。随即发现另一侧视网膜也有多发性血管瘤,并且伴有小脑的成血管细胞瘤、多囊胰腺和多囊肾。另外,患者的一个兄弟也出现视网膜多发性血管瘤,所以可建立家族性von Hippel-Lindau综合征的诊断。
Von Hippel-Lindau syndrome is inherited in an autosomal dominant manner and is often accompanied by a variety of benign and malignant tumors. It is characterized by hemangioblastoma of the central nervous system, multiple hemangiomas of the internal organs and retina, renal cell carcinoma (RCC) and astrocytoma. Autopsy found that about 30% of affected individuals had RCC. Here the author describes the chromosomal alterations of a 24-year-old von Hippel-Lindau syndrome renal cell carcinoma. The patient was female and one side of the eyeball was removed due to multiple retinal hemangiomas. Then there was also multiple hemangiomas on the other side of the retina, with hemangioblastomas of the cerebellum, polycystic pancreas, and polycystic kidneys. In addition, a brother of the patient also has multiple retinal hemangiomas, so a diagnosis of familial von Hippel-Lindau syndrome can be established.