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甲状腺瘤中BRAF K601E突变的患病率和预后影响:系统性审查和元分析
Alyssa Webster1, Rami M Elshazli2,3, Dylan Pinion1
1School of Medicine, Tulane University, New Orleans, Louisiana, USA.
甲状腺癌中的BRAF K601E突变呈现出一个独特的临床病理实体,患病率低于V600E. 这种突变与不太具有攻击性的特征有关,这表明疾病的过程可能更惰.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 激活BRAF瘤基因突变在乳头甲状腺癌 (PTC) 中很普遍.
- 虽然BRAF K601E突变不太常见,但可能意味着甲状腺瘤的一个独特的子集,具有独特的临床行为.
研究的目的:
- 为了调查甲状腺瘤中BRAF K601E突变的患病率,临床病理特征和临床影响.
- 将K601E突变甲状腺癌的特征与更常见的V600E突变进行比较.
主要方法:
- 使用COSMIC数据库和in silico数据进行生物信息学分析.
- 对32项研究 (13,191名患者) 的系统性文献综述报告了甲状腺瘤中BRAF突变.
- 综合患病率,组织病理学亚型,甲状腺外延伸,淋巴结转移,复发和生存数据的元分析.
主要成果:
- 在2.8%的PTC中发现了BRAF K601E突变,明显低于V600E的22%.
- K601E突变丰富于像NIFTP (11.2%的病例) 这样的卵泡模式变体.
- 分析显示,与V600E相比,K601E突变的PTC显著减少了甲状腺外延伸 (RR=0.22,p=0.0003).
结论:
- BRAF K601E突变的甲状腺瘤是一个独特的临床病理学实体.
- 这种实体与低风险的组织学和减少的甲状腺外延伸有关,这表明其临床过程可能比V600E突变更软弱.
- 检测K601E可能会为保守的管理策略提供信息,这需要进一步的前性调查.
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