·希佩尔 - 林道氏病是一种疾病
Russell R Lonser1, Gladys M Glenn, McClellan Walther
1Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA. lonserr@ninds.nih.gov
Lancet (London, England)
|June 20, 2003
概括
·希佩尔-林多病是一种罕见的遗传性癌症综合征,由VHL基因突变引起. 它增加了各种瘤的风险,需要对受影响个体进行多学科管理.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 遗传性癌症综合征 遗传性癌症综合征
背景情况:
- ·希佩尔-林道氏病 (VHL) 是一种自体主导性疾病.
- 它源于染色体3p上的VHL瘤抑制基因的生殖基因突变.
- VHL疾病影响多个器官系统,增加癌症风险.
研究的目的:
- 提供关于希佩尔-林道病的全面概述.
- 详细说明临床表现和管理策略.
- 概述VHL相关瘤的当前治疗选择.
主要方法:
- 临床方面,管理和治疗的文献综述.
- 综合有关VHL疾病流行病学和遗传学的信息.
- 诊断标准和监测协议的概述.
主要成果:
- VHL疾病大约影响36,000个活产中的1个.
- 个体容易发生中枢神经系统,脏,上腺,胰腺和生殖器官的良性和恶性瘤.
- 由于瘤的多样性,管理需要采用多学科的方法.
结论:
- ·希佩尔-林多病是一种显著的遗传性癌症综合征.
- 早期诊断和多学科护理对于管理VHL疾病至关重要.
- 目前正在进行的研究旨在改善VHL相关瘤的治疗结果.
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