title: BRAF V600E mutation in epilepsy-associated glioneuronal tumors: Prevalence and correlation with clinical features in a Chinese population.
abstract: OBJECTIVE
  Glioneuronal tumors (GNTs) are the most common histological type of brain tumors in patients who received epilepsy surgery, and part of them presented with BRAF V600E mutation. We aimed to verify the presence of the BRAF V600E mutation in epilepsy-associated GNTs from Chinese population and evaluate the association with clinical features.
  
  
  METHODS
  Data from 35 patients diagnosed with GNTs, including 24 gangliogliomas and 11 dysembryoplastic neuroepithelial tumors, were retrospectively collected. DNA was extracted from GNTs tissues and BRAF V600E mutation was examined by DNA sequencing. The correlations between BRAF V600E mutation and clinical features were analyzed.
  
  
  RESULTS
  Totally, BRAF V600E mutations were detected in 11 patients with GNTs, the rate of mutation were 33.3% and 27.3% in GGs (8/24) and DNTs (3/11), respectively. The probability of BRAF V600E mutation in females (7/12, 58.3%) was significantly higher than that in males (4/23, 17.4%) (P=0.022). Moreover, patients with BRAF-mutated GNTs had a significantly wider variety of seizure types compared to GNTs with BRAF wild-type status (P=0.027). However, no significant correlation between the BRAF status and certain clinical features, such as age of seizure onset, duration of epilepsy, age at surgery, location of the tumor and postoperative seizure free, were observed.
  
  
  CONCLUSIONS
  We demonstrated the presence of BRAF V600E mutation in Chinese epileptic patients with GNTs, which was significantly correlated with gender and multiple seizure types. Large sample studies and long-term follow-up are required for further confirmation.
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Yin-Xi
authors.initials: YX
authors.lastname: Zhang
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Chun-Hong
authors.initials: CH
authors.lastname: Shen
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Guo
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Zheng
authors.affiliation: Department of Neurosurgery & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Jun-Ming
authors.initials: JM
authors.lastname: Zhu
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Ye-Lei
authors.initials: YL
authors.lastname: Tang
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Neurology & Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88, Jiefang Road, Hangzhou 310009, China. Electronic address: meipingd@163.com.
authors.forename: Mei-Ping
authors.initials: MP
authors.lastname: Ding
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D001932:Brain Neoplasms / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D004569:Electroencephalography; D004827:Epilepsy / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D005260:Female; D005910:Glioma / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D013223:Statistics as Topic; D018709:Statistics, Nonparametric; D014633:Valine / Q000235:genetics; D055815:Young Adult
chemical_list: D018698:Glutamic Acid; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D014633:Valine
keywords: BRAF V600E mutation; Epilepsy; Glioneuronal tumors