title: The highly prevalent H3F3A mutation in giant cell tumours of bone is not shared by sporadic central giant cell lesion of the jaws.
abstract: OBJECTIVE
  Central giant cell lesion (CGCL) and giant cell tumour (GCT) are bone lesions that share similar microscopic features. Recently, it was reported that 90% of bone GCT exhibit either p.Gly34 Trp or p.Gly34 Leu in H3F3A, one of two genes for histone H3.3 located on chromosome 1. We aimed to test whether sporadic CGCL of the jaws share the H3F3A mutations reported in GCT of other bones.
  
  
  METHODS
  Nine samples of CGCL of the jaws were included in the study, and mutations were assessed by direct sequencing.
  
  
  RESULTS
  None of the CGCL samples presented the recurrent p.Gly34 Trp or p.Gly34 Leu mutations in the H3F3A gene.
  
  
  CONCLUSIONS
  On the basis of our findings, H3F3A p.Gly34 Trp or p.Gly34 Leu mutations are not a frequent event in CGCL. If these alterations are confirmed to be exclusive of GCT, the assessment of H3F3A mutations may help in the differential diagnosis of GCT and CGCL of the jaws.
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: 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: Fabrício Rezende
authors.initials: FR
authors.lastname: Amaral
authors.affiliation: Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: Bruna Viana
authors.initials: BV
authors.lastname: Antonini Guimarães
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. Electronic address: rsgomez@ufmg.br.
authors.forename: Ricardo Santiago
authors.initials: RS
authors.lastname: Gomez
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D018212:Giant Cell Tumor of Bone / Q000235:genetics*; D006801:Humans; D007573:Jaw Neoplasms / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D014408:Biomarkers, Tumor