Acquired Secondary RAS Mutation in BRAFV600E-Mutated Thyroid Cancer Patients Treated with BRAF Inhibitors

Thyroid. 2020 Sep;30(9):1288-1296. doi: 10.1089/thy.2019.0514. Epub 2020 May 7.

Abstract

Background: The BRAFV600E mutation is the most common driver mutation in papillary thyroid cancer (PTC) and anaplastic thyroid cancer (ATC). This mutation is considered actionable and, for BRAFV600E-mutated ATC, a BRAF inhibitor (dabrafenib) in combination with an MEK inhibitor (trametinib) is FDA approved. BRAF inhibitors have also shown efficacy in BRAFV600E-mutated PTC. However, as with all targeted therapies, resistance to these drugs eventually develops. It is essential that we understand the mechanisms of resistance to the BRAF inhibitors in thyroid cancer to develop future strategies to effectively treat these patients and improve survival. Patients: Herein, we describe four patients with thyroid cancer treated with selective BRAF inhibitors, who developed a RAS mutation in addition to the BRAFV600E mutation at progression. Results: Patients 1 and 3 acquired a KRASG12V mutation in the progressive tumor, patient 2 acquired a NRASQ61K mutation in a progressive lymph node, and patient 4 acquired NRASG13D mutation on liquid biopsy performed at the time of radiographic disease progression. Conclusion: Similar to the melanoma experience, the emergence of RAS mutations appears to act as a mechanism of resistance to BRAF inhibitors in thyroid cancers.

Keywords: anaplastic thyroid cancer; clonal divergence; dabrafenib; differentiated thyroid cancer; drug resistance; genetic mutations; kinase inhibitors; molecular testing; mutational pathways; papillary thyroid cancer.

Publication types

  • Case Reports

MeSH terms

  • Data Collection
  • Disease Progression
  • Genes, ras
  • Humans
  • Immunotherapy
  • Liquid Biopsy
  • Male
  • Middle Aged
  • Mutation
  • Mutation, Missense*
  • Positron Emission Tomography Computed Tomography
  • Protein Kinase Inhibitors / therapeutic use
  • Proto-Oncogene Proteins B-raf / antagonists & inhibitors*
  • Proto-Oncogene Proteins B-raf / genetics*
  • Thyroid Cancer, Papillary / drug therapy*
  • Thyroid Cancer, Papillary / genetics*
  • Thyroid Cancer, Papillary / mortality
  • Thyroid Carcinoma, Anaplastic / drug therapy
  • Thyroid Neoplasms / drug therapy*
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / mortality
  • Treatment Outcome

Substances

  • Protein Kinase Inhibitors
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf