颅咽管瘤中CTNBB1基因突变意义研究  

Mutation of CTNBB1 gene in human craniopharyngioma tissues and its meanings

作　　者：李宗平[1,2,3] 游潮[1] 黄思庆 徐建国[1] 谭学书[4] 刘平[4] 

机构地区：[1]四川大学华西医院神经外科,成都610041 [2]四川大学华西医院 [3]绵阳市中心医院 [4]绵阳市中心医院神经外科,四川621000

出　　处：《中国临床神经外科杂志》2013年第4期224-226,共3页Chinese Journal of Clinical Neurosurgery

摘　　要：目的探讨颅咽管瘤组织中β-环连蛋白(CTNBB1)基因改变及其意义。方法 2001年1月至2006年1月收集颅咽管瘤标本50例,其中釉质上皮型33例,鳞形乳头型17例。另取颅脑损伤手术减压切除正常脑组织20例作为对照。应用PCR、变性高效液相色谱(DHPLC)和DNA测序等方法对颅咽管瘤组织和对照组正常脑组织进行CTNBB1基因外显子3的突变进行筛选和分析。结果颅咽管瘤和正常脑组织都存在CTNBB1外显子3突变,其中第46位亮氨酸密码与由CTG变为TTG,但未改变编码的氨基酸。颅咽管瘤组织CTNBB1外显子3突变率(14%,7/50)与对照组(5%,1/20)相比,差异无统计学意义(P>0.05)。釉质上皮型颅咽管瘤组织CTNBB1外显子3突变率(21%,7/33)明显高于鳞状乳头型[(0);P<0.05]。若将鳞形乳头型颅咽管瘤组患者和正常对照组患者合并,其CTNBB1外显子3突变率(2.7%,1/37),与釉质上皮型颅咽管瘤组差异有统计学意义(P<0.05)。结论釉质上皮型颅咽管瘤的肿瘤细胞中存在CTNBB1外显子3突变,这种突变可能导致β-环连蛋白的异常表达。在釉质上皮型颅咽管瘤的发生过程中,由β-环连蛋白的异常表达激活的异常Wnt通路改变可能起到重要作用。Objective To explore the effect of gene mutation on the pathogenesis and development of the craniopharyngioma and its mechanism. Methods Fifty specimens of the tumorous tissues, of which, 33 were enamel epithelial cell type craniopharygiomas and 17 squamous cell type, were obtained from 50 patients with craniopharygiomas who underwent microneurosurgery from January, 2001 to January, 2006. Twenty specimens of the normal cerebral tissues were obtained from patients with traumatic brain injury who underwent craniotomy. The denaturing high performance liquid chromalography （DHPLC） was used to screen the mutation of the extron 3 of CTNBB1 gene （β-catenin gene） in all the specimens. Then the techniques of polymerase chain reaction （PCR） and DNA sequencing were used to analyze the abnormal specimens detected by DHPLC. Results The DHPLC screening showed that mutation of the extron 3 of CTNBB1 gene occurred in 8 specimens, of which, 1 was normal cerebral tissues and 7 were tumor tissues of enamel epithelial cell type. The DNA sequencing showed that the sequence of CTG of the forty-sixth leucine was mutated into TTG. There was no significance difference in the mutant rates between the tumor tissues （14%, 7/50） and the normal cerebral tissues [（5%, 1/20）;P〉0.05]. However, the mutant rate was significantly higher in specimens of enamel epithelial cell type （21%, 7/33） than that （0） in squamous cell type （P〈0.05）, and it was also significantly higher than that （2.7%, 1/37） in specimens of normal cerebral tissues combined with squamous cell type （P〈 0.05）. Conclusion The mutation （leu46： CTG→TTG） of the extron 3 of CTNBB1 gene in craniopharygioma of enamel epithelial cell type may be involved in its pathogenesis and development.

关 键 词：颅咽管瘤 基因突变 Β-环连蛋白 

分 类 号：R739.41[医药卫生—肿瘤] Q786[医药卫生—临床医学]