不同病理级别胶质瘤细胞中IDH1基因变异表达观察

IDH1 mutation observed in different pathological grades of glioma cells

背景与目的:胶质瘤是最常见的成人原发性神经系统恶性肿瘤,具有较高的病死率和病残率。深入研究胶质瘤的发生发展,无论对于其诊断还是治疗,都具有重要意义。本文通过观察异柠檬酸脱氢酶1(IDH1)基因变异在不同病理级别胶质瘤中表达,初步分析IDH1基因变异与胶质瘤病理分级的相关性及意义。方法:采用直接测序法对30例不同病理级别胶质瘤标本进行IDH1基因变异检测,并取5例外伤额颞叶减压脑组织标本作为对照。比色法计算肿瘤组织内IDH1酶活力,结果采用SPSS13.0进行统计学分析。结果:30例胶质瘤标本中16例(53.33%)发生IDH1基因变异,并与肿瘤病理分级具有相关性,变异后酶活力下降明显。结论:IDH1基因变异在胶质瘤中发生频率较高,变异后酶活力下降,将影响胶质瘤的发生发展。

BACKGROUND ＆ OBJECTIVE： Isoeitrate dehydrogenase 1 （IDH1） gene mutation has been suggested to be associated with the development of glioma. In this article, we investigated the frequency of IDH1 mutation in different pathological grade gliomas. METHODS： IDH1 gene variant was detected by direct sequencing of 30 cases of different pathological grades of glioma specimens, and five cases of traumatic frontotemporal decompression brain tissue specimens were taken as controls. IDH1 enzyme activity in tumor tissue was measured by colorimetry. RESULTS： Among 30 cases of glioma, IDH1 gene mutation was found in 16 cases （53.33%）, which was correlated with tumor grade. The mutated enzyme activity decreased significantly. CONCLUSION： The frequency of IDH1 gene mutation is high in gliomas and the enzyme activity decreased after the mutation.