SOMATIC MUTATION ANALYSIS OF NEUROFIBROMATOSIS TYPE I

该项目的目标是确定NF 1突变等位基因在NF 1表型中的作用，并剖析NF 1相关肿瘤中肿瘤进展所涉及的生化途径。 两个假设正在接受检验。 首先，NF1的特定特征在具有相似NF1突变的个体中更常见。 第二个假设是，突变发生在NF 1相关肿瘤中，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，并在核心实验室完成了DNA提取和EBV转化。 在5名患者中检测到NF1突变，但仅对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NF 1队列，以增加如果存在等位基因特异性临床特征则可以检测到特定突变的可能性。 描述这项工作的几个手稿已经出版。

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.