Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma. Issue 3 (2nd August 2022)

• Record Type: Journal Article
• 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
• Is Part Of: European journal of endocrinology. Volume 187:Issue 3(2022)
• Page Start: K33
• Page End: K38
• Publication Date: 2022-08-02
• Subjects: Endocrinology -- Periodicals; 616.4005
• DOI: 10.1530/EJE-22-0366
• Languages: English
• ISSNs: 0804-4643

Abstract

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.