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在RAS驱动的分化甲状腺癌中,额外的瘤变化与更糟糕的临床病理结果有关
Athanasios Bikas1,2, Sara Ahmadi1,2, Theodora Pappa1,2,3
1Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
概括
甲状腺癌中的RAS突变表明,当存在额外的遗传改变时,预后会更差. 基因组分析有助于确定侵略性表型,并为更好的患者结果提供临床决策信息.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 在各种甲状腺瘤中,RAS突变很普遍,因此需要改进的预后工具.
- 了解同时发生的遗传事件的影响对于管理RAS突变甲状腺癌至关重要.
研究的目的:
- 研究其他遗传变异如何影响RAS突变甲状腺癌患者的预后,特别是差异化甲状腺癌 (DTC).
- 为了将二次突变的存在与甲状腺癌患者的临床特征和结果相关联.
主要方法:
- 临床基因组分析78名患有差异化甲状腺癌 (DTC),差异化甲状腺癌 (PDTC) 或形甲状腺癌 (ATC) 的患者进行了下一代测序.
- 单独RAS突变患者和RAS以及其他瘤变异患者之间的临床特征和结果的比较.
主要成果:
- 22% (17/78) 的患者有RAS突变与额外的瘤变异;所有形甲状腺癌 (ATC) 都有二次突变.
- 患有DTC和额外突变的患者表现出更高的高风险复发率 (77%对12%),更大的瘤 (4.7对2.5厘米) 和晚期疾病 (67%对3%).
- 与单独RAS突变 (20%对1.8%) 相比,具有额外突变的患者的DTC特异性死亡率是额外突变的10倍以上.
结论:
- 在RAS突变甲状腺癌中,额外的遗传突变与更具侵略性的表型和在DTC中增加的死亡风险有关.
- 差异化甲状腺癌的基因组分析可以识别更高风险的患者,指导临床决策.
- 这些发现有助于解释RAS突变甲状腺瘤中观察到的可变临床行为.
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