与转移性甲状腺癌中的放射性贪相关的遗传变化的特征
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Updated: Jul 9, 2025

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Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
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Zhuanzhuan Mu1,2, Xin Zhang1,2, Di Sun1,2
1Department of Nuclear Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College (PUMC) Hospital, Chinese Academy of Medical Sciences & PUMC, Beijing, 100730, China.
The Journal of clinical endocrinology and metabolism
|December 7, 2023
概括
差异化甲状腺癌 (DTC) 与远程转移 (DM) 的遗传突变影响放射性 (RAI) 的吸收. BRAF和TERT促进子突变与RAI耐火DTC相关,有助于早期识别.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 遗传学 是一个
背景情况:
- 带有远程转移 (DM) 的差异化甲状腺癌 (DTC) 通常在及时识别放射性 (RAI) 耐火性状态时存在挑战.
- 了解RAI吸收模式的遗传基础对于早期识别RAI耐火DTC至关重要.
研究的目的:
- 研究DM-DTC患者中与明显的RAI吸收模式相关的分子特征.
- 识别可预测RAI贪性或折射性的遗传标记.
主要方法:
- 对214名患有DM-DTC的患者进行了回顾性分析.
- RAI吸收模式的分类:最初的RAI耐火 (I-RAIR) 和最初的RAI狂热 (I-RAIA).
- 进一步将I-RAIA分类为持续的RAIA (C-RAIA),部分的RAIR (P-RAIR) 和逐渐的RAIR (G-RAIR).
- 基于主要驱动基因状态的分子亚型:BRAFV600E突变,RAS突变,融合等.
主要成果:
- 在I-RAIR模式中,BRAF,TERT促进体和TP53突变更为普遍.
- 在I-RAIA模式中,RET融合和RAS突变更频繁.
- 晚期突变 (TERT,TP53,PIK3CA) 在I-RAIR (50.0%) 和I-RAIA (26.9%) 中更常见.
- 与RAS突变 (4.5%) 或融合阳性 (20.7%) 瘤相比,BRAFV600E突变瘤的I-RAIR发生率更高 (64.4%).
- 在BRAFV600E突变瘤中,在I-RAIA亚组中,C-RAIA的患病率较低.
结论:
- 在DM-DTC中的I-RAIR模式主要与BRAF和/或TERT促进体突变有关.
- 在I-RAIR组的RAS突变通常伴随着晚期突变.
- 聚变,当存在时,经常作为孤立事件发生.
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