【摘要】 目的 探讨脑胶质瘤端粒酶反转录酶(TERT)启动子突变与1p/19q缺失的相关性。方法 使用Sanger测序法及荧光原位杂交法检测了110例脑胶质瘤TERT启动子基因突变、1p/19q缺失，统计分析TERT启动子突变与1p/19q缺失的关系。结果 110例胶质瘤的石蜡标本TERT启动子突变率为39.09%(43/110),其中C228T突变率为32.56%(14/43),C250T突变率为67.44%(29/43)。1p/19q缺失率为28.18%(31/110)。相关性分析发现，伴有IDH突变的较低级别胶质瘤及间变性胶质细胞瘤中，TERT启动子突变与1p/19q缺失呈显著正相关(r_p=0.856,P=0.000)。结论 伴有IDH突变的较低级别胶质瘤及间变性胶质细胞瘤中，TERT启动子突变与1p/19q缺失之间可能存在密切关联。更多还原

【Abstract】 Objective To investigate the correlation between telomerase reverse transcriptase(TERT) promoter mutation and 1 p/19 q deletion in glioma. Methods TERT promoter gene mutation and 1 p/19 q deletion were detected by first-generation Sanger sequencing and fluorescence in situ hybridization in 110 cases of gliomas, so as to statistically analyze the correlation between TERT promoter mutation and 1 p/19 q deletion. Results The mutation rate of TERT promoter in paraffin samples of gliomas was 39.09%(43/110), including 32.56%(14/43) for C228 T and 67.44%(29/43) for C250 T. The rate of 1 p/19 q deletion was 28.18%(31/110). The correlation analysis showed that there was a strong link between TERT promoter mutation and 1 p/19 q deletion(r_p=0.856, P=0.000), in lower grade gliomas and stromal degenerative gliomas which were accompanied with IDH mutation. Conclusion There may be a compatible correlation between TERT promoter mutation and 1 p/19 q deletion in lower grade gliomas and stromal degenerative gliomas which are accompanied with IDH mutation.更多还原