Mutations of the BRAF gene in papillary thyroid carcinoma and in Hashimoto's thyroiditis

Pathol Int. 2005 Sep;55(9):540-5. doi: 10.1111/j.1440-1827.2005.01866.x.

Abstract

The purpose of the present study was to investigate the frequency of BRAF mutations in human papillary thyroid carcinoma (PTC) and Hashimoto's thyroiditis (HT) and to evaluate the association of the BRAF mutation with the clinicopathological features of both of these thyroid disorders. A total of 51 PTC with no HT, 28 PTC with HT and 27 HT with no PTC were evaluated using DNA extracted from paraffin-embedded specimens. BRAF mutations were analyzed by direct DNA sequencing of the polymerase chain reaction (PCR)-amplified exon 15. The BRAF missense mutation at codon 599 (T1796A) was present in 46 of 51 PTC (90%) with no HT, 18 of 28 PTC (64%) with HT, four of 28 HT (14%) with PTC, and zero of 27 HT with no PTC. The BRAF mutation at codon 600 (A1798G) was not detected in any case. Clinicopathological examination of 106 patients with either PTC or HT showed that the BRAF mutation was significantly correlated with patient age. These data indicate that the BRAF mutation is associated with a valuable biological property of PTC and may participate in the pathogenesis of PTC arising in HT. These results indicate that the detection of the BRAF mutation in HT can be helpful for prediction of progress to PTC.

MeSH terms

  • Adenocarcinoma, Papillary / genetics*
  • Adenocarcinoma, Papillary / metabolism
  • Adenocarcinoma, Papillary / pathology
  • Adult
  • Biomarkers, Tumor / metabolism
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis
  • Female
  • Humans
  • Immunoenzyme Techniques
  • Male
  • Middle Aged
  • Mutation, Missense / genetics
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins B-raf / genetics*
  • Proto-Oncogene Proteins B-raf / metabolism
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / metabolism
  • Thyroid Neoplasms / pathology
  • Thyroiditis, Autoimmune / genetics*
  • Thyroiditis, Autoimmune / metabolism
  • Thyroiditis, Autoimmune / pathology

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf