摘要
目的 分析散发神经鞘瘤发生NF2基因突变及其与临床行为之间的关系。方法 应用PCR SSCP、DNA测序观察 36例神经鞘瘤中发生的NF2基因突变 ,用Ki 6 7、PCNA免疫组织化学分析听神经瘤的增殖指数。结果 36例神经鞘瘤中有 13个突变 ,包括缺失、插入所致的移码突变 6例 ,2例无义突变 ,2例反义突变 ,3例剪接位点改变 ;其中发生于E2的 4例、E4的 2例、E6的 4例、E13的 2例 ;发生突变的听神经瘤生长指数、增殖指数亦较高。结论 NF2基因突变是神经鞘瘤发生中的常发事件 ,其与肿瘤的临床行为之间有一定的关系。
Objective To analyze the mutation of NF2 gene in sporadic schwannomas and the correlation between mutation and clinical behavior.Methods The NF2 gene mutation in 36 schwannomas were observed by PCR SSCP, and DNA sequence. The proliferative index of schwannoma were detected by immunohistochemistry. Results We found 13 mutations in 36 schwannomas, including 6 deletion or insertion which result in a frameshift, 2 nonsense mutations, 2 missense mutations and 3 alterations affected acceptor or donor splicing sites of E4, E6,E13. The growth index, proliferative index of acoustic neuroma with mutation were higher than those without mutation. Conclusions NF2 gene mutation is a frequent event in the tumorogenesis of schwannomas, and there is some correlation between the mutation and clinical behavior.
出处
《中华神经外科杂志》
CSCD
北大核心
2002年第2期96-99,共4页
Chinese Journal of Neurosurgery
基金
上海市科委科技启明星计划 (OOQB14 0 2 4)
上海市教委课题 (2 0 0 0QN86)基金资助
