Lonser Russell R, Glenn Gladys M, Walther McClellan, Chew Emily Y, Libutti Steven K, Linehan W Marston, Oldfield Edward H
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA.
Lancet. 2003 Jun 14;361(9374):2059-67. doi: 10.1016/S0140-6736(03)13643-4.
von Hippel-Lindau disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3. This disorder is not rare (about one in 36000 livebirths) and is inherited as a highly penetrant autosomal dominant trait (ie, with a high individual risk of disease). Affected individuals are at risk of developing various benign and malignant tumours of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive adnexal organs. Because of the complexities associated with management of the various types of tumours in this disease, treatment is multidisciplinary. We present an overview of the clinical aspects, management, and treatment options for von Hippel-Lindau disease.
冯·希佩尔-林道病是一种遗传性多系统癌症综合征，与3号染色体短臂上的VHL肿瘤抑制基因的种系突变有关。这种疾病并不罕见（约每36000例活产中有1例），以高度显性的常染色体显性性状遗传（即个体患该病的风险很高）。受影响的个体有患中枢神经系统、肾脏、肾上腺、胰腺和生殖附属器官各种良性和恶性肿瘤的风险。由于这种疾病中各种类型肿瘤的管理存在复杂性，治疗是多学科的。我们概述了冯·希佩尔-林道病的临床方面、管理和治疗选择。
