Department of Public Health, University of Naples Federico II, Naples, Italy.
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
Expert Rev Endocrinol Metab. 2022 Mar;17(2):167-178. doi: 10.1080/17446651.2022.2060819. Epub 2022 Apr 11.
Rearranged during transfection () gene fusions are detected in 10-20% of thyroid cancer patients. Recently, fusion-positive metastatic thyroid cancers have attracted much attention owing to the FDA approval of two highly selective anti-RET tyrosine kinase inhibitors, namely, selpercatinib, and pralsetinib.
This review summarizes the available evidence on the biological and predictive role of gene fusions in thyroid carcinoma patients and the latest screening assays currently used to detect these genomic alterations in histological and cytological specimens.
Management of advanced thyroid carcinoma has significantly evolved over the last decade thanks to the approval of three multikinase inhibitors, i.e. sorafenib, lenvatinib, cabozantinib, and of two selective RET-tyrosine inhibitors, i.e. selpercatinib and pralsetinib. In this setting, the detection of RET-fusions in advanced thyroid cancer specimens through the use of next-generation sequencing has become a commonly used strategy in clinical practice to select the best treatment options.
在 10%-20%的甲状腺癌患者中检测到 () 基因重排。最近，由于 FDA 批准了两种高度选择性的抗 RET 酪氨酸激酶抑制剂，即塞普替尼和普拉替尼，融合阳性转移性甲状腺癌引起了广泛关注。
本文综述了 基因融合在甲状腺癌患者中的生物学和预测作用的现有证据，以及目前用于检测组织学和细胞学标本中这些基因组改变的最新筛选检测方法。
得益于三种多激酶抑制剂（即索拉非尼、仑伐替尼、卡博替尼）和两种选择性 RET-酪氨酸激酶抑制剂（即塞普替尼和普拉替尼）的批准，过去十年中晚期甲状腺癌的治疗已经取得了显著进展。在这种情况下，通过使用下一代测序在晚期甲状腺癌标本中检测到 RET 融合已经成为临床实践中选择最佳治疗方案的常用策略。
