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

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

Camille Buffet  1 , Lucie Allard  1 , Erell Guillerm  2 , Cécile Ghander  1 , Elise Mathy  1 , Charlotte Lussey-Lepoutre  3 , Nicolas Julien  4 , Eliane Touma  1 , Pauline Quilhot  5 , Gaelle Godiris-Petit  6 , Jean-Marc Lacorte  7 , Laurence Leenhardt  1 , Jérôme Alexandre Denis  7
Affiliations

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

Camille Buffet et al. Eur J Endocrinol. .

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.

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