A novel complex BRAF mutation detected in a solid variant of papillary thyroid carcinoma

Endocr Pathol. 2009 Summer;20(2):122-6. doi: 10.1007/s12022-009-9073-3.

Abstract

BRAF gene mutations are identified in about 45% of papillary thyroid carcinomas (PTC) and represent the most common genetic event in this tumor. Here, we report a case of PTC, solid variant, with a complex BRAF mutation that involves one nucleotide substitution, C1796T, and a CTT triplet insertion, 1798_1799insCTT, located on the same allele. This mutation leads to the replacement of a threonine with an isoleucine, T599I, and replacement of a valine with an alanine and a leucine, V600delinsAL. This mutation was identified both in the preoperative fine needle aspirate sample and in the surgical specimen after total thyroidectomy. Other rare BRAF mutations in PTC are reviewed.

Publication types

  • Case Reports

MeSH terms

  • Biopsy, Fine-Needle
  • Carcinoma, Papillary / genetics*
  • Carcinoma, Papillary / pathology
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Proto-Oncogene Proteins B-raf / genetics*
  • Thyroid Nodule / genetics*
  • Thyroid Nodule / pathology

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf