title: Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent.
abstract: BACKGROUND
  Ganglioglioma (GG) and pilocytic astrocytoma (PA) represent the most frequent low-grade gliomas (LGG) occurring in paediatric age. LGGs not amenable of complete resection (CR) represent a challenging subgroup where traditional treatments often fail. Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively.
  
  
  METHODS
  We report on a case of BRAFV600E mutated cervicomedullary GG treated with standard chemotherapy and surgery. After multiple relapse, BRAF status was analyzed by immunohistochemistry and sequencing showing a BRAFV600E mutation. Treatment with Vemurafenib as single agent was started. For the first time, a radiological and clinical response was obtained after 3 months of treatment and sustained after 6 months.
  
  
  CONCLUSIONS
  Our experience underline the importance of understanding the driver molecular alterations of LGG and suggests a role for Vemurafenib in the treatment of pediatric GG not amenable of complete surgical resection.
authors.affiliation: Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy. fradelbufalo@yahoo.it.
authors.forename: Francesca
authors.initials: F
authors.lastname: del Bufalo
authors.affiliation: Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant' Onofrio 4, 00165, Rome, Italy. andrea.carai@opbg.net.
authors.forename: Andrea
authors.initials: A
authors.lastname: Carai
authors.affiliation: Department of Radiology, Unit of Neuroradiology, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant' Onofrio 4, 00165, Rome, Italy. lorenzo.figatalamanca@opbg.net.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Figà-Talamanca
authors.affiliation: Paediatric Neurosurgery Department, Alder Hey Children's NHS Foundation Trust, Liverpool, UK. Benedetta.Pettorini@alderhey.nhs.uk.
authors.forename: Benedetta
authors.initials: B
authors.lastname: Pettorini
authors.affiliation: Paediatric Neurosurgery Department, Alder Hey Children's NHS Foundation Trust, Liverpool, UK. Conor.Mallucci@alderhey.nhs.uk.
authors.forename: Conor
authors.initials: C
authors.lastname: Mallucci
authors.affiliation: Department of Radiological, Oncological and Pathological Science, Sapienza University, Viale Regina Elena 291, 00161, Rome, Italy. felice.giangaspero@uniroma1.it.|Neuromed Institute, IRCCS, Via Atinense 18, 86077, Isernia, Pozzilli, IS, Italy. felice.giangaspero@uniroma1.it.
authors.forename: Felice
authors.initials: F
authors.lastname: Giangaspero
authors.affiliation: Department of Radiological, Oncological and Pathological Science, Sapienza University, Viale Regina Elena 291, 00161, Rome, Italy. manila_antonelli@yahoo.it.
authors.forename: Manila
authors.initials: M
authors.lastname: Antonelli
authors.affiliation: Bone Marrow Transplantation Unit, Microcitemico Children's Hospital, Via Jenner s/n 09121, Cagliari, Italy. manuelabadiali@asl8cagliari.it.
authors.forename: Manuela
authors.initials: M
authors.lastname: Badiali
authors.affiliation: Public Health, Clinic and Molecular Medicine Department, Microcitemico Children's Hospital, Via Jenner s/n 09121, Cagliari, Italy. lorymoi@hotmail.it.
authors.forename: Loredana
authors.initials: L
authors.lastname: Moi
authors.affiliation: Pharmacy Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy. giuseppe2.bianco@opbg.net.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Bianco
authors.affiliation: Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy. antonella.cacchione@opbg.net.
authors.forename: Antonella
authors.initials: A
authors.lastname: Cacchione
authors.affiliation: Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy. franco.locatelli@opbg.net.|University of Pavia, Strada Nuova, 27100, Pavia, Italy. franco.locatelli@opbg.net.
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.affiliation: Department of Experimental Medicine, Sapienza University, Viale Regina Elena 291, 00161, Rome, Italy. elisabetta.ferretti@uniroma1.it.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Ferretti
authors.affiliation: Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy. angela.mastronuzzi@opbg.net.
authors.forename: Angela
authors.initials: A
authors.lastname: Mastronuzzi
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001932:Brain Neoplasms / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D018303:Ganglioglioma / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007211:Indoles / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D013449:Sulfonamides / Q000627:therapeutic use*; D000077484:Vemurafenib
chemical_list: D000970:Antineoplastic Agents; D007211:Indoles; D013449:Sulfonamides; D000077484:Vemurafenib; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf