title: BRAF V600E and loss of heterozygosity assessment in benign oralneural tumours.
abstract: BACKGROUND
  The purpose of this study was to evaluate loss of heterozygosity (LOH) and to assess BRAF V600E mutation in oral neurofibromas, palisaded encapsulated neuromas (PEN) and schwannomas.
  
  
  METHODS
  Six oral neurofibroma, 5 PEN and 3 schwannoma samples were included in the study. LOH was assessed using polymorphic microsatellite markers at chromosome regions 3p (marker D3S1029), 9p (markers D9S171, D9S162, D9S157), 11q (marker D11S1369), and 17p (markers AFM238WF2 and P53), and results were evaluated after capillary electrophoresis. BRAF mutation encoding V600E was assessed by real-time PCR with a specific TaqMan probe to detect the T>A transversion at position c.1799.
  
  
  RESULTS
  LOH occurred at chromosomes 3p (marker D3S1029), 11q (D11S1369) and 17p (AFM238WF2 and P53). LOH occurred in 2/6 neurofibromas, 2/5 PEN and in none of the 3 schwannoma samples. The 6 neurofibromas, 2/2 PEN evaluated and the 3 schwannomas were BRAF wild type.
  
  
  CONCLUSIONS
  According to our results, oral benign peripheral nerve sheath tumours have a low LOH rate, but P53 locus alteration is occasionally found. Additionally, BRAF V600E mutation is either not relevant to the molecular pathogenesis of this group of lesions of the oral cavity, or may occur at very low rates.
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: Leonardo Nogueira
authors.initials: LN
authors.lastname: Rodrigues
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: GefterThiago Batista
authors.initials: GB
authors.lastname: Correa
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: Marina Gonçalves
authors.initials: MG
authors.lastname: Diniz
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: Clarice Ferreira
authors.initials: CF
authors.lastname: Galvão
authors.affiliation: Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: Carolina Cavaliéri
authors.initials: CC
authors.lastname: Gomes
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: Ricardo Santiago
authors.initials: RS
authors.lastname: Gomez
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D016147:Genes, Tumor Suppressor; D016158:Genes, p53; D006801:Humans; D007150:Immunohistochemistry; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009442:Neurilemmoma / Q000235:genetics*; D009455:Neurofibroma / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D055815:Young Adult
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF mutation; LOH; neurilemmoma; neurofibroma; palisaded encapsulated neuromas; schwannoma