Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma - Sorbonne Université Access content directly
Journal Articles European Journal of Endocrinology Year : 2022

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

Camille Buffet
Lucie Allard
Erell Guillerm
  • Function : Author
Cécile Ghander
  • Function : Author
Elise Mathy
  • Function : Author
Charlotte Lussey-Lepoutre
  • Function : Author
Nicolas Julien
  • Function : Author
Eliane Touma
  • Function : Author
Pauline Quilhot
  • Function : Author
Gaelle Godiris-Petit
  • Function : Author
Laurence Leenhardt
  • Function : Author
Jérôme Alexandre Denis

Abstract

Introduction Recently, targeted therapies using BRAF V600E 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 BRAF V600E 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 BRAF V600E mutation detection in the hope that starting targeted therapies early might improve outcomes.
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Dates and versions

hal-03970412 , version 1 (02-02-2023)

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Camille Buffet, Lucie Allard, Erell Guillerm, Cécile Ghander, Elise Mathy, et al.. Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma. European Journal of Endocrinology, 2022, 187 (3), pp.K33-K38. ⟨10.1530/EJE-22-0366⟩. ⟨hal-03970412⟩
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