THE DIAGNOSTIC EVALUATION AND MULTIDISCIPLINARY MANAGEMENT OF NEUROFIBROMATOSIS-1 AND NEUROFIBROMATOSIS-2

Objective.-Neurofibromatosis 1 and neurofibromatosis 2 are autosomal d ominant genetic disorders in which affected individuals develop both b enign and malignant tumors at an increased frequency, Since the origin al National Institutes of Health Consensus Development Conference in 1 987, there has been significant progress toward a more complete unders tanding of the molecular bases for neurofibromatosis 1 and neurofibrom atosis 2. Our objective was to determine the diagnostic criteria for n eurofibromatosis 1 and neurofibromatosis 2, recommendations for the ca re of patients and their families at diagnosis and during routine foll ow-up, and the role of DNA diagnostic testing in the evaluation of the se disorders, Data Sources.-Published reports from 1966 through 1996 o btained by MEDLINE search and studies presented at national and intern ational meetings. Study Selection.-All studies were reviewed and analy zed by consensus from multiple authors. Data Extraction.-Peer-reviewed published data were critically evaluated by independent extraction by multiple authors. Data Synthesis.-The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site. Conclusions.-On the basis of the information presented in this review, we propose a comprehensive a pproach to the diagnosis and treatment of individuals with neurofibrom atosis 1 and neurofibromatosis 2.