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Eur J Endocrinol ; 187(3): K33-K38, 2022 Sep 01.
Article in English | MEDLINE | ID: mdl-35900324

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.


Subject(s)
Thyroid Carcinoma, Anaplastic , Thyroid Neoplasms , 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
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