非V600EBRAF改变的细胞学不确定的甲状腺结节的临床和病理特征
Ryan Instrum1, Christina E Swartzwelder1, Ronald A Ghossein2
1Head and Neck Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Cancers
|March 13, 2025
概括
在不确定的甲状腺结节 (ITN) 中的非V600E BRAF 变化很少见,但往往是恶性的. 大多数是低风险的癌症,这表明甲状腺叶切除术或积极监测可能是合适的初始治疗选择.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 分子测试有助于确定不确定的甲状腺结节 (ITNs) 的风险分层.
- BRAF V600E突变强烈表明甲状腺癌.
- 在ITN中其他BRAF变化的恶性瘤风险需要进一步调查.
研究的目的:
- 为了评估恶性瘤 (ROM) 的风险,组织病理学诊断,以及非V600E BRAF改变的ITN的临床结果.
- 为了区分与孤立的非V600E BRAF突变与其他BRAF变异相关的恶性瘤风险.
主要方法:
- 对955名ITN患者的基因组分析数据的回顾性分析.
- 排除具有BRAF V600E突变的结节.
- 对经过手术管理的BRAF改变的ITN的临床,放射和组织病理数据的分析,根据美国甲状腺协会 (ATA) 的风险分类.
主要成果:
- 3.9%的ITN包含非V600E BRAF修改,总体ROM的73%.
- 大多数改变是孤立的BRAF突变 (78.4%),主要是K601E.
- 与其他BRAF变异 (37.5%) 相比,孤立的BRAF突变显示中等/高风险病理的发生率较低 (0%).
- 在随访期间没有观察到远程转移,复发或死亡.
结论:
- 非V600E BRAF改变的ITN不常见,主要是恶性,但通常风险低.
- 孤立的非V600E BRAF突变与大量良性或低风险癌症有关.
- 甲状腺叶切除术或积极监测可能是选择非V600E BRAF改变的ITN的适当初始管理.
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