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端粒酶逆转录酶突变的毛囊变体乳头甲状腺癌带着骨转移的乳头甲状腺癌

Nicole Chan¹, Syed Gilani², Grace Kim¹

¹Division of Endocrinology and Metabolism, Albany Medical College, Albany, NY 12208, USA.

JCEM case reports

|September 22, 2025

概括

带有TERT促进子突变的乳头性甲状腺癌 (FV-PTC) 的毛囊型变体可以在骨中积极转移. 这一案例凸显了监测FV-PTC患者晚期复发的重要性.

科学领域:

在瘤学瘤学.
内分泌学在内分泌学.
遗传学是一个遗传学.

背景情况:

皮囊性甲状腺癌 (FV-PTC) 的毛囊性变体通常具有良好的预后.
侵略性行为和转移与FV-PTC中的TERT促进子突变有关.
尾骨转移在乳头甲状腺癌中是罕见的.

研究的目的:

报告一个FV-PTC的攻击性,晚发性骨转移病例.
突出 TERT 促进子突变在攻击性 FV-PTC 中的作用.
强调在管理FV-PTC复发时需要动态风险评估.

主要方法:

一个58岁的妇女的病例介绍,她有甲状腺癌的病史.
影像和活检证实了转移的FV-PTC在骨.
分子测试发现了一种TERT促进体突变.
治疗包括手术切除和放射性治疗.

主要成果:

患者出现了急性腿部疼痛,这是由于破坏性骨损伤造成的.
活检证实了转移的FV-PTC.
确定了TERT促进子突变c.124C>T.
放射性扫描显示了小腿骨和肋骨中的激性病变.

结论:

有TERT促进子突变阳性的FV-PTC可以表现出侵略性,晚发转移性行为.
尾骨转移,虽然很少见,可以发生.
动态风险评估对于早期发现和管理FV-PTC复发至关重要.

关键词:

毛囊变体乳头甲状腺癌乳头甲状腺癌转移转移转移转移皮囊性甲状腺癌是什么?端粒酶逆转录酶的作用

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