Clinical efficacy with dabrafenib and trametinib in a T599_V600insT poorly differentiated metastatic thyroid carcinoma

BMJ Case Rep. 2021 Aug 19;14(8):e243264. doi: 10.1136/bcr-2021-243264.

Abstract

BRAF (v-raf murine sarcoma viral oncogene homolog B1) and MEK (mitogen-activated protein kinase kinase) inhibitors have been shown to improve clinical outcomes in tumours presenting with mutations in the BRAF gene. The most common form of BRAF mutation is V600E/K and has been shown to occur in thyroid cancers. Treatment data for patients harbouring less frequent BRAF mutations are limited. In vitro studies have shown that mutations in codons 599-601 increase kinase activity similar to that in V600E mutations, which suggests that BRAF and MEK inhibitors could be an effective treatment option. Here, we report a case of a patient with thyroid carcinoma harbouring a rare amino acid insertion in codon 599 of the BRAF gene (T599_V600insT) treated with a BRAF and MEK inhibitor.

Keywords: cancer intervention; oncology; tyrosine kinase inhibitor.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Humans
  • Imidazoles
  • Mice
  • Oximes* / therapeutic use
  • Pyridones
  • Pyrimidinones
  • Thyroid Neoplasms* / drug therapy
  • Thyroid Neoplasms* / genetics
  • Treatment Outcome

Substances

  • Imidazoles
  • Oximes
  • Pyridones
  • Pyrimidinones
  • trametinib
  • dabrafenib