PDF(Pubmed)
Abstract：
BACKGROUND: Molecular testing has been used as an adjunct to morphological evaluation in the workup of thyroid nodules. This study investigated the impact of two gene fusions, RET/PTC and THADA/IGF2BP3, that have been described as oncogenic events in thyroid neoplasms.
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.
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.
摘要：
背景：分子检测已被用作甲状腺结节检查中形态学评估的辅助手段。这项研究调查了两种基因融合的影响，RET/PTC和THADA/IGF2BP3被描述为甲状腺肿瘤的致癌事件。
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。
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。
