DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma

Br J Oral Maxillofac Surg. 2007 Sep;45(6):499-500. doi: 10.1016/j.bjoms.2006.03.017. Epub 2006 May 19.

Abstract

A mutation of the SH3BP2 gene is known to cause cherubism. As there are clinical and histopathological similarities between central giant cell granuloma and cherubism, we made a constitutional DNA analysis of the SH3BP2 gene in four patients with aggressive giant cell granuloma (having one or more of the following features pain, paraesthesia, rapid growth, or root resorption). We found no mutations in the SH3BP2 gene, which indicates that cherubism is a separate entity. However, a somatic mutation in a specific group of cells could cause the focal lesions in giant cell granuloma. Further DNA analysis of the tissue of giant cell granulomas therefore seems indicated.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Cherubism / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Granuloma, Giant Cell / blood
  • Granuloma, Giant Cell / genetics*
  • Humans
  • Jaw Diseases / blood
  • Jaw Diseases / genetics*
  • Male
  • Mutation
  • Polymerase Chain Reaction

Substances

  • Adaptor Proteins, Signal Transducing
  • SH3BP2 protein, human