CHOROID-PLEXUS PAPILLOMA - A NEW PRESENTATION OF VONHIPPEL-LINDAU (VHL) DISEASE
CHOROID-PLEXUS PAPILLOMA - A NEW PRESENTATION OF VONHIPPEL-LINDAU (VHL) DISEASE
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作者：
BLAMIRES, TL;MAHER, ER
Von Hippel-Lindau [VHL]病和脉络膜丛肿瘤之间的明确联系以前没有描述过。一个24岁的病人被发现有一个脉络膜丛肿瘤在左小脑桥角和累及颞骨。眼底检查显示双侧视网膜血管瘤病，诊断为希佩尔-林道病。随后，腹部扫描显示肾和胰腺囊肿。重要的一点是，脉络膜丛肿瘤组织的分子分析显示，3号染色体等位基因缺失与其他与希佩尔-林道病相关的肿瘤类型相同。
A definite association between Von Hippel-Lindau [VHL] disease and choroid plexus tumour has not been described previously. A 24-year-old patient was found to have a choroid plexus tumour in the left cerebellopontine angle and involving the temporal bone. Examination of her fundi revealed bilateral retinal angiomatosis, thus making a diagnosis of von Hippel-Lindau disease. Later, an abdominal scan showed renal and pancreatic cysts. An important point is that molecular analysis of the choroid plexus tumour tissue showed chromosome 3 allele loss as described for other tumour types associated with von Hippel-Lindau disease.