RET、NTRK1/3 和 ALK 的受体酪氨酸激酶 (RTK) 融合在患有转移性和持续性疾病的儿科甲状腺癌患者中丰富，其癌蛋白代表有吸引力的药物靶点。我们对缺乏其他常见驱动因素的乳头状甲状腺癌进行了 RNA 测序我们报告了一名患有血管侵袭性滤泡变异性乳头状甲状腺癌的 17 岁女性患者的一种新型 RTK 融合，即 TG-IGF1R。框内融合蛋白保留了具有二聚化特性的 TG 的胆碱酯酶样结构域以及 IGF1R 的跨膜和激酶结构域。肿瘤样本显示 IGF1R mRNA 表达和酪氨酸激酶磷酸化增加、MAPK 转录输出基因增加和 NIS 水平降低。我们在甲状腺癌中发现了一种新型靶向激酶融合癌基因，该基因未纳入不同的甲状腺特异性测序面板中。将 IGF1R 融合​​筛查整合到下一版本的甲状腺特异性靶向 NGS 组合中可能对甲状腺癌患者有益。

Receptor Tyrosine Kinase (RTK) fusions of RET, NTRK1/3, and ALK are enriched among pediatric thyroid cancer patients with metastatic and persistent disease and their oncoproteins represent attractive drug targets.We performed RNA-sequencing in a papillary thyroid cancer lacking other frequent driver alterations.We report a novel RTK fusion, TG-IGF1R, in a 17-year-old female patient with angioinvasive follicular variant papillary thyroid cancer. The in-frame fusion protein preserves the cholinesterase-like domain of TG with dimerization properties and the transmembrane and kinase domain of IGF1R. The tumor sample shows increased IGF1R mRNA expression and tyrosine kinase phosphorylation, augmentation of MAPK transcriptional output genes and decreased NIS levels.We reveal a novel targetable kinase fusion oncogene in thyroid cancer which is not incorporated in different thyroid-specific sequencing panels. The integration of IGF1R fusion screening in the next versions of thyroid-specific targeted NGS panels may be beneficial to thyroid cancer patients.