Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma

Eur J Endocrinol. 2022 Aug 2;187(3):K33-K38. doi: 10.1530/EJE-22-0366. Print 2022 Sep 1.

Abstract

Introduction: Recently, targeted therapies using BRAFV600E and MEK inhibitors (dabrafenib and trametinib, respectively) have been recommended in BRAF-mutated anaplastic thyroid carcinoma (ATC). Considering the fast development of ATC, droplet digital PCR (ddPCR) performed on fine-needle aspirate (FNA), which is a rapid, reliable, and low-cost method, appears interesting for the detection of BRAFV600E mutation in these patients and allows early initiation of targeted therapies.

Results: In our two patients, both presenting extensive cervical masses inaccessible to surgery, ddPCR results were available in less than 24 h. Therefore, dabrafenib and trametinib were started only a few days after first contact.

Conclusions: We suggest that ddPCR on FNA be used in non-resectable cervical masses for rapid BRAFV600E mutation detection in the hope that starting targeted therapies early might improve outcomes.

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols
  • Humans
  • Imidazoles
  • Mutation
  • Oximes
  • Polymerase Chain Reaction / methods
  • Proto-Oncogene Proteins B-raf / genetics
  • Pyridones
  • Pyrimidinones
  • Thyroid Carcinoma, Anaplastic* / drug therapy
  • Thyroid Carcinoma, Anaplastic* / genetics
  • Thyroid Carcinoma, Anaplastic* / pathology
  • Thyroid Neoplasms* / drug therapy
  • Thyroid Neoplasms* / genetics
  • Thyroid Neoplasms* / pathology

Substances

  • Imidazoles
  • Oximes
  • Pyridones
  • Pyrimidinones
  • trametinib
  • Proto-Oncogene Proteins B-raf
  • dabrafenib