人工智能支持的整合表明TP53路径变化作为不成比例的健康负担的人群中的预后生物标志物
Fernando C Diaz1, Brigette Waldrup2, Francisco G Carranza2
1Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27514, USA.
International journal of molecular sciences
|February 13, 2026
概括
早发性结直肠癌 (EOCRC) 的发病率越来越高,特别是在西班牙裔/拉丁裔人群中. 在EOCRC患者中,TP53通路的改变是常见的,可能会对EOCRC患者的祖先群体不同的治疗结果产生不同的影响.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 生物信息学是一种生物信息学.
背景情况:
- 早发性结直肠癌 (EOCRC) 发病率正在上升,特别是在西班牙裔/拉丁裔 (H/L) 人群中,这些人在分子研究中代表性不足.
- TP53信号通路对于结直肠癌的发展至关重要.
- 了解TP53在不同祖先的EOCRC中的作用对于个性化治疗至关重要.
研究的目的:
- 在不同祖先群体的FOLFOX治疗EOCRC患者中调查TP53通路变化的预后意义.
- 探索EOCRC中TP53路径改变的祖先和治疗特异性模式.
- 展示人工智能驱动的平台在EOCRC中分析复杂的临床和基因组数据的实用性.
主要方法:
- 对2515例结直肠癌 (CRC) 病例的分析,包括266名H/L和2249名非西班牙裔白人 (NHW) 患者,按祖先,年龄和FOLFOX治疗分层.
- 统计分析的应用 (费舍尔的精确,奇平方,卡普兰-梅尔).
- 利用AI-HOPE和AI-HOPE-TP53进行多维数据集成和自然语言驱动的临床,基因组和治疗特征的探索.
主要成果:
- 在接受FOLFOX.53的EOCRC患者中,TP53通路的改变在H/L (85%) 和NHW (83%) 两种患者中都很普遍.
- 在NHW患者中,FOLFOX治疗与TP53突变的增加和ATM/CDKN2A突变的减少相关.
- 在H/L患者中,CHEK2的改变较少,错误的突变在所有组中都占主导地位.
结论:
- 在EOCRC中,TP53通路的改变显示出祖先和治疗特定的临床模式.
- 支持人工智能的综合分析框架可以在EOCRC中产生假设并确定精密瘤学的潜在生物标志物.
- 需要进一步验证以确认这些发现及其临床影响.
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