甲状腺癌多原风险评分提高了甲状腺结节的良性或恶性分类
Nikita Pozdeyev1,2,3, Manjiri Dighe4, Martin Barrio5
1Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
将遗传风险得分与超声波结合起来,可以改善甲状腺结节的诊断. 这种新方法提高了识别恶性甲状腺结节的准确性,为患者提供了更精确的风险评估.
科学领域:
- 基因组学就是基因组学.
- 医疗成像医学成像
- 在瘤学瘤学.
背景情况:
- 目前的甲状腺结节风险评估依赖于超声波特征,但一些恶性结节看起来是良性的.
- 需要改进的方法来准确评估甲状腺结节风险.
研究的目的:
- 为了研究遗传性甲状腺癌风险的多基因风险评分 (PRS) 与超声波分析的结合.
- 通过整合遗传和成像数据,提高甲状腺结节风险评估的准确性.
主要方法:
- 在甲状腺超声波图像和剪辑上训练了一个卷积神经网络分类器.
- 用全现象关联研究 (PheWAS) 来优化PRS,以区分良性和恶性结节.
- 在一个大型生物库队列 (73,346名参与者) 中评估了PRS.
主要成果:
- 将深度学习超声波分析与甲状腺癌PRS和遗传祖先相结合,使分类器在接收器操作特征曲线 (AUROC) 下的区域从0.83提高到0.89.
- 集成分类器实现了高灵敏度 (0.95) 和负预测值 (0.97).
- 升高的PRS与甲状腺癌结构性疾病复发风险增加有关.
结论:
- 将多基因风险评分与基于超声波的评估相结合,可显著提高甲状腺结节的诊断准确度.
- 这种综合方法为风险分层提供了更强大的方法,并可能改善患者管理.
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