IDENTIFICATION OF NEW MUTATIONS IN THE NF2 GENE

描述： 研究计划：候选人希望最终改进诊断 和前庭神经鞘瘤的治疗。他假设 NF2抑癌基因的特定突变导致 这些患者的临床发现。目标是定义：1） NF2肿瘤抑制基因中存在的特定突变，2) 特定突变与临床表现的关系，以及3) 特定突变与细胞增殖分数的关系。 研究将在他的 150 个存档的神经鞘瘤中进行 合作者团体。临床数据将从图表审查中获得 和 X 射线研究。在具体目标 1 中，异源双链分析、单 链构象多态性 (SSCP) 和 mRNA 突变分析将 进行以确定存在的突变类型。流式细胞仪和 免疫组织化学分析技术将用于测量 肿瘤组织中细胞增殖的直接指标。

DESCRIPTION: Research Program: The candidate hopes to eventually improve the diagnosis and treatment of vestibular schwannomas. He hypothesizes that the specific mutations in the NF2 tumor suppressor gene account for the clinical findings in these patients. The goals are to define: 1) the specific mutations present in the NF2 tumor suppressor gene, 2) the relation of specific mutations to clinical manifestations, and 3) the relation of specific mutations to cellular proliferation fractions. Studies will be carried out in 150 archived schwannomas from his collaborator groups. Clinical data will be obtained from chart reviews and x-ray studies. In Specific Aim 1, heteroduplex analysis, single- strand conformation polymorphism (SSCP) and mRNA mutation analyses will be performed to determine types of mutations present. Flow cytometry and immunohistochemical analysis techniques will be used for measuring direct indicators of cellular proliferation in the tumor tissues.