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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 relationship between NF2 gene mutation and its clinical behavior in schwannomas. Methods The mutation of NF2 gene in 36 schwannomas was observed by PCR SSCP and DNA sequencing. Proliferation index of acoustic neuroma was analyzed by Ki67 and PCNA immunohistochemistry. Results Thirteen mutations were found in 36 schwannomas, including 6 cases of frameshift mutation caused by deletion and insertion, 2 cases of nonsense mutation, 2 cases of antisense mutation and 3 cases of splice site alteration. Among them, 4 Cases, E4 in 2 cases, E6 in 4 cases, E13 in 2 cases; mutation in the acoustic neuroma growth index, proliferation index is also higher. Conclusion The mutation of NF2 gene is a frequent event in the development of schwannoma and has certain relationship with the clinical behavior of the tumor.