SOMATIC MUTATION ANALYSIS OF NEUROFIBROMATOSIS TYPE I

本项目的目的是确定NF1突变等位基因在NF1表型中的作用，并剖析NF1相关肿瘤中参与肿瘤进展的生化途径。目前正在检验两种假设。首先，NF1的特定特征在具有类似NF1突变的个人中更常见。第二个假设是突变发生在NF1相关的肿瘤中，影响肿瘤进展的途径。研究人员现在已经收集了26名NF1患者，DNA提取和EBV转化已经在核心实验室完成。已在5名患者中检测到NF1突变，尽管只对8名患者进行了全面筛查。目前的策略旨在选择具有相似表型的NF1队列，以便增加如果存在等位基因特异的临床特征就可以检测到特定突变的可能性。描述这项工作的几份手稿已经出版。

The objectives of this project are to determine the role of NF1 mutant alleles in the phenotype of NF1 and to dissect the biochemical pathways involved in tumor progression in NF1-related tumors. Two hypothesizes are being tested. The first is that specific features of NF1 are more commonly found in individuals who have similar NF1 mutations. The second hypothesis is that mutations occur in NF1-related tumors which affect pathways involved in tumor progression. The investigators have now collected 26 NF1 patients and DNA extraction and EBV-transformation has been accomplished in the core laboratory. NF1 mutations have been detected in five patients although only eight individuals have been comprehensively screened. Current strategies are aimed at selecting NF1 cohorts with similar phenotypes in order to increase the likelihood that a specific mutation can be detected if there are allele-specific clinical features. Several manuscripts describing this work have been published.