Analysis of GNAS mutations in cemento-ossifying fibromas and cemento-osseous dysplasias of the jaws

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 May;109(5):739-43. doi: 10.1016/j.tripleo.2009.12.016. Epub 2010 Mar 25.

Abstract

Objectives: It is well established that fibrous dysplasia (FD) is caused by mutations of the Arg(201) codon of the GNAS gene. However, the role of GNAS mutation in the pathogenesis of cement-osseous dysplasias (COD) and cemento-ossifying fibromas (COF) is not fully known. In this study, we examined COD and COF for mutations at the Arg(201) codon of the GNAS gene.

Study design: The study sample included formalin-fixed, paraffin-embedded tissue blocks from 8 COF and 24 COD. We used 2 PCR-RFLP methods to detect mutations at the Arg(201) codon of the GNAS gene.

Results: Mutations at the Arg(201) codon of the GNAS gene were not present in any of the COD and COF examined.

Conclusions: GNAS mutations do not play a role in the pathogenesis of COD and COF. This highlights a clear molecular distinction between FD and other histologically similar fibro-osseous lesions of the jaws.

MeSH terms

  • Arginine / genetics
  • Cementoma / genetics*
  • Chromogranins
  • Codon / genetics
  • DNA Primers
  • DNA, Neoplasm / analysis
  • Fibrous Dysplasia of Bone / genetics
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Gene Frequency / genetics
  • Histidine / genetics
  • Humans
  • Jaw Neoplasms / genetics*
  • Mutation / genetics*
  • Odontogenic Tumors / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Sequence Analysis, DNA

Substances

  • Chromogranins
  • Codon
  • DNA Primers
  • DNA, Neoplasm
  • Histidine
  • Arginine
  • GNAS protein, human
  • GTP-Binding Protein alpha Subunits, Gs