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

Authors :
Buffet, Camille
Allard, Lucie
Guillerm, Erell
Ghander, Cécile
Mathy, Elise
Lussey-Lepoutre, Charlotte
Julien, Nicolas
Touma, Eliane
Quilhot, Pauline
Godiris-Petit, Gaelle
Lacorte, Jean-Marc
Leenhardt, Laurence
Denis, Jérôme Alexandre
Source :
European Journal of Endocrinology; Sep2022, Vol. 187 Issue 3, pK33-K38, 6p
Publication Year :
2022

Abstract

Introduction: Recently, targeted therapies using BRAF<superscript>V600E</superscript> 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<superscript>V600E</superscript> 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<superscript>V600E</superscript> mutation detection in the hope that starting targeted therapies early might improve outcomes. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
08044643
Volume :
187
Issue :
3
Database :
Complementary Index
Journal :
European Journal of Endocrinology
Publication Type :
Academic Journal
Accession number :
158557934
Full Text :
https://doi.org/10.1530/EJE-22-0366