Zhong Zhang, Wang Zheng, Wang Yinyan, You Gan, Jiang Tao
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Neurosurgical Institute, Beijing, China; Beijing Institute for Brain Disorders, Beijing, China.
Epilepsy Res. 2015 Jan;109:100-5. doi: 10.1016/j.eplepsyres.2014.09.012. Epub 2014 Nov 5.
Seizure commonly presents as an initial symptom and plays an important role in the clinical presentation and quality of life of patients with low-grade glioma (LGG). To date, the mechanism and genetic alterations underlying tumor-related seizures in LGG remain to be fully elucidated. Both isocitrate dehydrogenase 1/2 (IDH1/2) mutation and seizure frequently occur in patients with LGG. We set out to investigate the potential relationship between IDH1/2 mutation and presentation of seizure preoperatively, and observe whether or not IDH1/2 mutation influences seizure control postoperatively.
A total of 311 adult patients with LGG were enrolled in our study with both clinical data and IDH1/2 mutation data available. IDH1/2 mutation was detected directly by pyro-sequencing. The chi-squared test was performed to determine whether the IDH1/2 mutation has any relevance to seizure onset and to evaluate the potential impact that IDH1/2 mutation may exert on seizure control postoperatively.
Seizure presented as an initial symptom in 71.4% (222/311) of patients with LGG, among which 189 patients were detected to bear IDH1/2 mutation in their tumors (P=0.035, chi-squared test). However, IDH1/2 mutation does not seem to contribute to the seizure control postoperatively (P=0.350 and 0.577 for the 6- and 12-month follow-up, respectively, chi-squared test).
IDH1/2 mutation occurs more frequently in LGG patients with seizure as an initial symptom, suggesting a potential relationship between this genetic phenotype and clinical seizure presentation. IDH1/2 mutation shows no prognostic value for postoperative seizure control.
癫痫发作通常是低级别胶质瘤（LGG）患者的初始症状，在其临床表现和生活质量中起着重要作用。迄今为止，LGG中肿瘤相关性癫痫发作的机制和基因改变仍有待充分阐明。异柠檬酸脱氢酶1/2（IDH1/2）突变和癫痫发作在LGG患者中均频繁出现。我们旨在研究IDH1/2突变与术前癫痫发作表现之间的潜在关系，并观察IDH1/2突变是否影响术后癫痫控制。
共有311例成年LGG患者纳入本研究，同时具备临床数据和IDH1/2突变数据。通过焦磷酸测序直接检测IDH1/2突变。采用卡方检验确定IDH1/2突变与癫痫发作是否相关，并评估IDH1/2突变对术后癫痫控制可能产生的潜在影响。
71.4%（222/311）的LGG患者以癫痫发作为初始症状，其中189例患者的肿瘤检测到IDH1/2突变（卡方检验，P = 0.035）。然而，IDH1/2突变似乎对术后癫痫控制无影响（6个月和12个月随访的卡方检验P值分别为0.350和0.577）。
IDH1/2突变在以癫痫发作为初始症状的LGG患者中更频繁出现，提示这种基因表型与临床癫痫发作表现之间存在潜在关系。IDH1/2突变对术后癫痫控制无预后价值。
