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在远程转移性甲状腺癌中DICER1突变的独特作用
Cong Shi1,2, Zhuanzhuan Mu1,2, Wenting Guo3
1Department of Nuclear Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Chinese journal of cancer research = Chung-kuo yen cheng yen chiu
|January 13, 2025
概括
DICER1基因突变在6.5%的远端转移性卵泡细胞衍生的甲状腺癌 (FDTC) 患者中被发现. 这些突变表明一种更具攻击性的癌症子集,具有类似RAS的特征.
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:
- 有远程转移的卵泡细胞衍生的甲状腺癌 (FDTC) 提出了重大的临床挑战.
- 了解侵略性FDTC的分子驱动因素对于向治疗至关重要.
研究的目的:
- 在患有远端转移性FDTC的患者中调查DICER1基因突变的临床意义.
- 分析DICER1突变和其他遗传改变之间的相互作用.
- 基于DICER1突变状态的临床病理特征进行比较.
主要方法:
- 对310名患有远端转移性FDTC的中国患者的分析.
- 基因组分析以确定DICER1突变和同时发生的变化.
- 具有致病性/可能致病性DICER1突变,其他基因变异和没有变异的组之间的临床病理特征的比较.
- 针对BRAFV600E,RAS突变和RET融合的孤立DICER1突变的比较分析.
主要成果:
- 在6.5%的队列中存在DICER1突变.
- 致病性/可能致病性DICER1变异与BRAFV600E等早期驱动因素相互排斥,但与TP53突变共存.
- 突变DICER1的FDTC表现出更大的瘤,更高的差异化癌症比例,增加了甲状腺外延伸,更多的肺外转移,以及更高的放射性耐火率.
- DICER1突变显示了类似RAS的临床特征,与BRAFV600E和RET融合不同,但在特定方面与RAS突变相似.
结论:
- DICER1基因突变是FDTC的一个显著的分子事件.
- DICER1突变标识了FDTC的一个攻击性子集.
- 与BRAFV600E或RET融合相比,DICER1突变瘤表现出更具侵略性的临床行为.
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