弥漫性胶质瘤患者中异柠檬酸脱氢酶和端粒酶反转录酶启动子突变与术前癫痫发作的关系

Relationship between isocitrate dehydrogenase and telomerase reverse transcriptase promoter mutations and seizures in patients with diffuse gliomas

目的探讨异柠檬酸脱氢酶(IDH)/端粒酶反转录酶启动子(TERTp)突变与弥漫性胶质瘤患者术前癫痫发作的关系。方法选取195例成人弥漫性胶质瘤患者进行本研究,同时获取患者的临床资料和IDH、TERTp突变数据。采用Sanger测序的方法检测IDH和TERTp突变情况。最终进行卡方检验以确定IDH和TERTp突变是否与癫痫发作有关。结果在195例弥漫性胶质瘤患者中,术前有癫痫发作的患者占29.2%,而发现IDH突变的占37.4%,TERTp突变的占45.1%。相关分析表明,IDH突变是影响肿瘤相关性癫痫发生的一个重要因素(P<0.05)。另一方面,TERTp突变与弥漫性胶质瘤患者的癫痫发作无明显相关(P>0.05)。根据IDH和TERTp突变情况不同将纳入本研究的患者分为不同亚组,肿瘤相关性癫痫的发生率在不同的亚组差异有统计学意义。结论IDH突变在术前具有癫痫症状的弥漫性胶质瘤患者中更为常见,提示该基因突变与癫痫发作呈正相关。而TERTp突变与癫痫发作无明显相关。

Objective To explore the potential relationship between isocitrate dehydrogenase(IDH)/telomerase reverse transcriptase promoter(TERTp)mutations and preoperative seizures in patients with diffuse gliomas.Methods 195 adult patients with diffuse gliomas were enrolled for the study.Clinical data and IDH,TERTp mutations data were obtained.Sanger sequencing was used to detect the mutations of IDH and TERTp.A chi-square test was conducted to determine whether IDH and TERTp mutations were associated with preoperative seizures.Results Among the 195 patients with diffuse gliomas,29.2%of the patients had epileptic seizures,and 37.4%of the IDH mutations and 45.1%of the TERTp mutations were found.Correlation analysis showed that IDH mutation was an important factor affecting the incidence of tumor-associated epilepsy(P<0.05).On the other hand,statistical analysis showed that there was no significant correlation between TERTp mutation and epileptic seizures in patients with diffuse gliomas(P>0.05).The patients enrolled in this study were divided into different subgroups according to the IDH and TERTp mutations,and the incidence of tumor-associated epilepsy was also different in the different subgroups.Conclusion IDH mutation is more common in patients with diffuse gliomas with epilepsy before operation,suggesting that this mutation is correlated with seizures.There was no significant correlation between TERTp mutation and seizures.