Joerger Markus, Koeberle Dieter, Neumann Hartmut P H, Gillessen Silke
Department of Medical Oncology, Antoni van Leeuwenhoek Hospital / The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Onkologie. 2005 Mar;28(3):159-63. doi: 10.1159/000083860.
Von Hippel-Lindau disease (VHL) is an autosomal dominant multisystemic cancer syndrome due to a mutation of the VHL tumor suppressor gene on chromosome 3, region p25-26, with an incidence of 1/36,000 in newborns. Patients are at risk of developing cerebellar, spinal and retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, pancreatic and renal cysts, and epididymal cystadenoma. The most common causes of death from VHL are metastases from renal cell carcinoma and neurological complications from cerebellar hemangioblastomas. Molecular analysis of the VHL gene is clinically available and indicated in patients with known or suspected VHL.
A 19-year-old woman was surgically treated for cerebellar hemangioblastoma in 1998 and for renal cell carcinoma of the right side in 2002. Familial VHL was subsequently diagnosed as the patient's mother was found to be affected with bilateral polycystic kidney disease with chronic renal failure as well as hemangioblastoma of the retina and medulla oblongata. The mother underwent surgery for bilateral renal cell carcinoma in 2003.
The multitude of VHL-associated tumors and intra-familial variability in clinical expressivity render early diagnosis of VHL difficult. We therefore shortly illustrate the spectrum of clinical phenotypes and the VHL screening and surveillance guidelines.
冯·希佩尔-林道病（VHL）是一种常染色体显性多系统癌症综合征，由位于3号染色体p25 - 26区域的VHL肿瘤抑制基因突变引起，新生儿发病率为1/36,000。患者有发生小脑、脊髓和视网膜血管母细胞瘤、肾细胞癌、嗜铬细胞瘤、胰腺神经内分泌肿瘤、胰腺和肾囊肿以及附睾囊腺瘤的风险。VHL最常见的死亡原因是肾细胞癌转移和小脑血管母细胞瘤的神经并发症。VHL基因的分子分析在临床上可用，适用于已知或疑似VHL的患者。
一名19岁女性在1998年接受了小脑血管母细胞瘤手术治疗，2002年接受了右侧肾细胞癌手术治疗。随后诊断为家族性VHL，因为发现患者的母亲患有双侧多囊肾病并伴有慢性肾衰竭，以及视网膜和延髓血管母细胞瘤。母亲于2003年接受了双侧肾细胞癌手术。
VHL相关肿瘤众多且家族内临床表型存在变异性，使得VHL的早期诊断困难。因此，我们简要阐述临床表型谱以及VHL筛查和监测指南。
