BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas.
The aim of this study was to verify the presence of BRAF mutations in a series of six patients affected by drug-resistant focal epilepsy associated with neocortical posterior temporal gangliogliomas (GG) who were subjected to lesionectomy between June 2008 and November 2013. GG are an increasingly recognized cause of epilepsy and represent the most common tumor in young patients undergoing surgery for intractable focal epilepsy. BRAF mutations have been identified in up to 50% of GG. Interestingly, these six patients shared a specific anatomical posterior temporal site. In all patients, histological examination confirmed the diagnosis of GG, and two were also associated with a focal cortical dysplasia (FCD) type IIa. BRAF mutations were found in four out of six GG (66.6%). Furthermore, dysplastic tissue of Patient 2 showed a concomitant BRAF V600E mutation. All patients but one (83.3%) achieved Engel Class Ia seizure control. The patient carrying a concomitant BRAF mutation in GG and FCD fell into Engel Class II. Further analyses will be required in order to better understand the meaning of BRAF mutations in epilepsy-associated tumors and FCD and their possible role as a prognostic seizure outcome and tumor behavior marker.
Division of Neurosurgery, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Via Altura 1/8, Bologna 40139, Italy. Electronic address: matteo.martinoni@gmail.com.
Matteo
M
Martinoni
Section of Pathology "M.Malpighi", Department of Biomedical and NeuroMotor Sciences, Bellaria Hospital, University of Bologna, Bologna, Italy.
Gianluca
G
Marucci
Department of Experimental, Diagnostic and Specialty Medicine, Anatomic Pathology, Bellaria Hospital, University of Bologna, Bologna, Italy.
Dario
D
de Biase
Division of Neurology, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Bologna, Italy; Danish Epilepsy Centre, Epilepsy Hospitalet, Dianalund, Denmark.
Guido
G
Rubboli
Division of Neurology, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.
Lilia
L
Volpi
Division of Neurology, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.
Patrizia
P
Riguzzi
Division of Neuroradiology, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.
Federica
F
Marliani
Division of Neuroradiology, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.
Francesco
F
Toni
IRCCS Istituto delle scienze neurologiche di Bologna, Bologna, Italy.
Ilaria
I
Naldi
IRCCS Istituto delle scienze neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Francesca
F
Bisulli
IRCCS Istituto delle scienze neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Paolo
P
Tinuper
Division of Neurology, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.
Roberto
R
Michelucci
IRCCS Istituto delle scienze neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Agostino
A
Baruzzi
Department of Experimental, Diagnostic and Specialty Medicine, Anatomic Pathology, Bellaria Hospital, University of Bologna, Bologna, Italy.
Giovanni
G
Tallini
Division of Neurosurgery, IRCCS Istituto delle scienze neurologiche di Bologna, Bellaria Hospital, Via Altura 1/8, Bologna 40139, Italy.
Marco
M
Giulioni
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001932:Brain Neoplasms / Q000150:complications* / Q000235:genetics* / Q000601:surgery; D002648:Child; D000069279:Drug Resistant Epilepsy / Q000209:etiology* / Q000235:genetics* / Q000601:surgery; D004827:Epilepsy / Q000235:genetics / Q000473:pathology; D004833:Epilepsy, Temporal Lobe / Q000209:etiology* / Q000235:genetics* / Q000601:surgery; D005260:Female; D018303:Ganglioglioma / Q000150:complications* / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008297:Male; D065703:Malformations of Cortical Development, Group I / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D019579:Neocortex / Q000473:pathology*; D019635:Neurosurgical Procedures; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012189:Retrospective Studies; D012640:Seizures / Q000235:genetics / Q000601:surgery; D016896:Treatment Outcome; D055815:Young Adult
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
BRAF V600E mutation; Epilepsy surgery; Focal cortical dysplasia; Gangliogliomas; Pharmacoresistant epilepsy; Seizure outcome