Yang Yuan, Mao Qing, Wang Xiang, Liu Yanhui, Mao Yunhe, Zhou Qiao, Luo Jiewen
Department of Neurosurgery, Waiguoxuexiang No. 37, West China Hospital, Si Chuan University, Chengdu 610041, Sichuan Province, China.
Department of Neurosurgery, Waiguoxuexiang No. 37, West China Hospital, Si Chuan University, Chengdu 610041, Sichuan Province, China.
J Clin Neurosci. 2016 Sep;31:56-62. doi: 10.1016/j.jocn.2015.11.030. Epub 2016 Jul 9.
Seizure is a common presenting symptom of glioma, and many biomarkers have been suggested to be associated with preoperative seizure; however, the relationships between IDH (isocitrate dehydrogenase) mutations and glioma-related epilepsy only recently been studied. The authors aimed to examine the correlations between IDH mutations in glioma patients with preoperative seizures and tumor location. A series of 170 glioma samples were analyzed for IDH1 R132H mutations (amino acid change from arginine to histidine at codon 132) with immunohistochemistry (IHC) staining and for IDH mutations with direct DNA sequencing when the IHC results were negative. If either the IHC or direct DNA sequencing result was positive, the IDH status was defined as mutated. The results of the IDH mutation examinations were used to analyze the relationship between mutations and glioma-related epilepsy. The study population consisted of 64 (37.6%) World Health Organization (WHO) grade II gliomas, 58 (34.1%) grade III, and 48 (28.3%) grade IV gliomas. A total of 84 samples with IDH1 mutations were observed in our study, and 54 of these presented with seizures as the initial symptoms, whereas 28 of the patients with wild-type IDH status presented with seizures (p=0.043 for the WHO grade II gliomas, p=0.002 for the grade III gliomas and p=0.942 for the grade IV gliomas, chi-squared tests). Among the WHO grade II and III gliomas, IDH1 mutations were significantly associated with preoperative seizures, but no significant relationship between IDH mutations and preoperative seizures was found with glioblastoma multiforme.
癫痫发作是胶质瘤常见的首发症状，许多生物标志物被认为与术前癫痫发作有关；然而，异柠檬酸脱氢酶（IDH）突变与胶质瘤相关癫痫之间的关系直到最近才被研究。作者旨在研究术前有癫痫发作的胶质瘤患者中IDH突变与肿瘤位置之间的相关性。对170例胶质瘤样本进行分析，采用免疫组织化学（IHC）染色检测IDH1 R132H突变（密码子132处氨基酸由精氨酸变为组氨酸），当IHC结果为阴性时，采用直接DNA测序检测IDH突变。如果IHC或直接DNA测序结果为阳性，则将IDH状态定义为突变型。IDH突变检测结果用于分析突变与胶质瘤相关癫痫之间的关系。研究人群包括64例（37.6%）世界卫生组织（WHO）二级胶质瘤、58例（34.1%）三级胶质瘤和48例（28.3%）四级胶质瘤。在我们的研究中，共观察到84个具有IDH1突变的样本，其中54个以癫痫发作为首发症状，而28例IDH状态为野生型的患者出现癫痫发作（二级胶质瘤p=0.043，三级胶质瘤p=0.002，四级胶质瘤p=0.942，卡方检验）。在WHO二级和三级胶质瘤中，IDH1突变与术前癫痫发作显著相关，但在多形性胶质母细胞瘤中未发现IDH突变与术前癫痫发作之间存在显著关系。
