Gutmann D H, Aylsworth A, Carey J C, Korf B, Marks J, Pyeritz R E, Rubenstein A, Viskochil D
Washington University, St Louis, MO 63110, USA.
JAMA. 1997 Jul 2;278(1):51-7.
Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2. Our objective was to determine the diagnostic criteria for neurofibromatosis 1 and neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders.
Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings.
All studies were reviewed and analyzed by consensus from multiple authors.
Peer-reviewed published data were critically evaluated by independent extraction by multiple authors.
The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site.
On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.
1型神经纤维瘤病和2型神经纤维瘤病是常染色体显性遗传病，患者发生良性和恶性肿瘤的频率增加。自1987年美国国立卫生研究院首次召开共识发展会议以来，在更全面地了解1型神经纤维瘤病和2型神经纤维瘤病的分子基础方面取得了重大进展。我们的目的是确定1型神经纤维瘤病和2型神经纤维瘤病的诊断标准、诊断时及常规随访期间对患者及其家属的护理建议，以及DNA诊断检测在评估这些疾病中的作用。
通过MEDLINE检索获得的1966年至1996年的已发表报告，以及在国内和国际会议上发表的研究。
所有研究均由多位作者通过共识进行审查和分析。
同行评审的已发表数据由多位作者独立提取并进行严格评估。
综述的主要结果为定性结果，由全球神经纤维瘤病临床主任通过互联网网站进行审查。
基于本综述中提供的信息，我们提出了一种针对1型神经纤维瘤病和2型神经纤维瘤病患者的综合诊断和治疗方法。
