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胰腺癌的特定路径基因组变化跨越多样化的队列

Cecilia Monge¹, Brigette Waldrup², Francisco G Carranza²

¹Center for Cancer Research, National Cancer Institute, Bethesda MD.

medRxiv : the preprint server for health sciences

|October 1, 2025

概括

与非西班牙裔白人患者相比,西班牙裔/拉丁裔胰腺癌患者的TGF-Beta通路突变较少,但生存结果相似. 需要进一步的研究,以了解针对性治疗的特定种族驱动因素.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
生物信息学是一种生物信息学.

背景情况:

胰腺癌 (PC) 存在重大生存挑战,在西班牙裔/拉丁裔 (H/L) 与非西班牙裔白人 (NHW) 患者群体中观察到差异.
H/L患者往往被诊断为年轻人,病情更为晚期,结果更差,但基本的分子驱动因素尚不清楚.
关键的致癌途径 (TP53,WNT,PI3K,TGF-Beta,RTK/RAS) 涉及到PC的进展和治疗反应,但它们的种族特异性作用需要探索.

研究的目的:

描述和比较H/L和NHW患者之间胰腺癌的途径特异性突变.
评估瘤突变负担,并确定特定种族的致癌驱动因素.
为优化精准医学和针对性疗法提供洞察力,用于代表性不足的人群.

主要方法:

对公开可用的胰腺癌数据集的生物信息学分析 (n=4,248;407 H/L,3,841 NHW).
评估TGF-Beta,RTK/RAS,WNT,PI3K和TP53通路内的基因的突变频率,按种族分层.
基二测试用于基因突变率比较和卡普兰-梅尔总生存时间分析.

主要成果:

观察到TGF-Beta途径突变的显著差异:H/L患者的患病率较低 (18.4%与24.4%,p=8.6e-3),SMAD2和SMAD4的显著变化.
在RTK/RAS (ERBB4,ALK,HRAS,RIT1) 和WNT (CTNNB1) 途径内的特定基因中发现了种族之间的边界显著差异.
对于H/L患者的整体存活率没有显著差异;NHW患者的TP53变化显示出边缘生存率差异.

结论:

TGF-Beta通路在H/L和NHW胰腺癌患者之间表现出明显的突变模式.
虽然在这个队列中,整体生存差异并不显著,但特定的途径变化可能具有差异性预后影响.
对特定种族分子驱动因素的进一步调查对于开发公平有效的精确瘤学策略至关重要.

关键词:

通过PI3K路径.在RTK/RAS路径上.在TGF-Beta路径上.通过TP53路径.通过WNT路径.癌症的差异和差异癌症的差异遗传突变基因突变胰腺癌是一种癌症.精准医学是一门精准医学.有针对性的治疗.

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