METHODS: We performed a retrospective, single-centered study at a McGill University teaching hospital in Montreal, Canada, from January 2016 to August 2021. We included patients who underwent surgery for thyroid nodules that pre-operatively underwent molecular testing showing either RET/PTC or THADA/IGF2BP3 gene fusion.
RESULTS: This study included 697 consecutive operated thyroid nodules assessed using molecular testing, of which five had the RET/PTC fusion and seven had the THADA/IGF2BP3 fusion. Of the five nodules in the RET/PTC group, 100% were malignant and presented as Bethesda V/VI. Eighty percent (4/5) were found to have lymph node metastasis. Twenty percent (1/5) had extrathyroidal extensions. Sixty percent (3/5) were a diffuse sclerosing variant of papillary thyroid carcinoma, and the rest were the classical variant. Of the seven THADA/IGF2BP3 nodules, all presented as Bethesda III/IV and 71.4% (5/7) were malignant based on the final pathology analysis, and 28.6% (2/7) were NIFTP. All the THADA/IGF2BP3 fusion malignancies were a follicular variant of papillary thyroid carcinoma. None had lymph node metastasis or displayed extrathyroidal extensions.
CONCLUSIONS: RET/PTC nodules presented as Bethesda V/VI and potentially had more aggressive features, whereas THADA/IGF2BP3 nodules presented as Bethesda III/IV and had more indolent behavior. This understanding may allow clinicians to develop more targeted treatment plans, such as the extent of surgery and adjuvant radioactive iodine treatment.
方法:我们进行了回顾性研究,蒙特利尔麦吉尔大学教学医院以单一为中心的研究,加拿大,从2016年1月到2021年8月。我们纳入了接受甲状腺结节手术的患者,术前接受了RET/PTC或THADA/IGF2BP3基因融合的分子检测。
结果:这项研究包括697个连续手术的甲状腺结节,使用分子检测进行评估,其中5例进行了RET/PTC融合,7例进行了THADA/IGF2BP3融合。在RET/PTC组的五个结节中,100%为恶性,表现为BethesdaV/VI。发现80%(4/5)有淋巴结转移。百分之二十(1/5)有甲状腺外延伸。60%(3/5)是甲状腺乳头状癌的弥漫性硬化变体,其余的都是经典的变种.在七个THADA/IGF2BP3结核中,根据最终病理分析,所有患者均表现为BethesdaIII/IV,71.4%(5/7)为恶性,28.6%(2/7)为NIFTP。所有THADA/IGF2BP3融合恶性肿瘤均为甲状腺乳头状癌的滤泡变体。没有淋巴结转移或显示甲状腺外延伸。
结论:RET/PTC结节表现为BethesdaV/VI,可能具有更积极的特征,而THADA/IGF2BP3结节表现为BethesdaIII/IV,并且具有更多的惰性行为。这种认识可以让临床医生制定更有针对性的治疗计划,如手术和辅助放射性碘治疗的程度。