title: New IDH1 I113T mutation associated with BRAF V600E mutation: new driver of gliomagenesis?
abstract: BACKGROUND
  IDH mutations and BRAF mutations are classically mutually exclusive and usually associated with infiltrative or circumscribed gliomas and glioneuronal tumors respectively.
  
  
  METHODS
  We report the case of a 26-year old man with intracranial hypertension revealing voluminous right frontal lesion. Surgical resection was performed and pathological examination found two distinct tumoral areas: a glioma-like area with calcification without mitosis; a second with pleomorphic glial cells with higher Mib index, high CD34 expression and endothelial proliferation. No necrosis was recorded. Molecular analyses revealed both IDH1 I113T and BRAF V600E mutations. Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation.
  
  
  CONCLUSIONS
  We report a new IDH1 mutation associated with BRAF mutation in a very unusual glial tumor.
authors.affiliation: APHM, Timone Hospital, Department of Anatomopathology, 13005 Marseille, France; Aix-Marseille Univ, CRO2, Inserm U911, 13005 Marseille, France. Electronic address: emeline.tabouret@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Tabouret
authors.affiliation: APHM, North Hospital, Transfert Unit, 13014 Marseille, France.
authors.forename: F
authors.initials: F
authors.lastname: Fina
authors.affiliation: Clairval Hospital, Department of Neuro-Surgery, 13009 Marseille, France.
authors.forename: F
authors.initials: F
authors.lastname: Vincentelli
authors.affiliation: APHM, North Hospital, Transfert Unit, 13014 Marseille, France.
authors.forename: I
authors.initials: I
authors.lastname: Nanni
authors.affiliation: APHM, Timone Hospital, Department of Anatomopathology, 13005 Marseille, France; Aix-Marseille Univ, CRO2, Inserm U911, 13005 Marseille, France.
authors.forename: D
authors.initials: D
authors.lastname: Figarella-Branger
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics*; D005910:Glioma / Q000235:genetics*; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF mutation; Glioma; IDH1 mutation; Pleomorphic xanthoastrocytoma