Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Service des Pathologies Thyroïdiennes et Tumeurs Endocrines, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, UF d'Onco-angiogénétique et Génomique des Tumeurs Solides, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
Eur J Endocrinol. 2022 Aug 2;187(3):K33-K38. doi: 10.1530/EJE-22-0366. Print 2022 Sep 1.
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.
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.
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.
最近，针对 BRAF V600E 和 MEK 抑制剂（分别为 dabrafenib 和 trametinib）的靶向治疗已被推荐用于 BRAF 突变的间变性甲状腺癌（ATC）。考虑到 ATC 的快速发展，细针抽吸（FNA）上的液滴数字 PCR（ddPCR）作为一种快速、可靠且低成本的方法，对于检测这些患者的 BRAF V600E 突变似乎很有趣，并允许早期开始靶向治疗。
在我们的两个患者中，均存在广泛的颈部肿块，无法进行手术，ddPCR 结果在不到 24 小时内即可获得。因此，仅在首次就诊后几天就开始使用 dabrafenib 和 trametinib。
我们建议在不可切除的颈部肿块中使用 FNA 上的 ddPCR，以快速检测 BRAF V600E 突变，希望早期开始靶向治疗能改善结果。
