PO.MD01.01 · 分子诊断与数据

人工智能驱动的精准医疗在接受 FOLFOX 治疗的非裔美国结直肠癌患者中识别具有预后意义的 WNT 通路改变

Artificial intelligence-driven precision medicine identifies prognostic WNT pathway alterations in African American colorectal cancer patients treated with FOLFOX

编号 5 展板 5 时间 4/19 02:00–05:00 区域 Section 1 主讲 Enrique Velazquez-Villarreal, MD;MPH;MS;PhD

分会场 AACR Project GENIE: Predictive Models and AI

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作者与单位 Authors & Affiliations

Tsion Z. Minas¹, Brigette Waldrup², Francisco G. Carranza², Sophia Manjarrez², Enrique Velazquez-Villarreal³

¹Department of Pathology, Johns Hopkins School of Medicine, Baltimore, MD,²Integrative Translational Sciences, Beckman Research Institute, City of Hope, Duarte, CA,³Integrative Translational Sciences, City of Hope Comprehensive Cancer Ctr., Duarte, CA

摘要 Abstract

中文摘要

背景：非裔美国人（AA）承受着不成比例的结直肠癌负担。Wingless 相关整合位点（WNT）和转化生长因子-β（TGF-beta）通路的失调促进肿瘤进展，然而它们在接受 FOLFOX 治疗的 AA 结直肠癌患者中的预后作用仍研究不足。方法：我们利用来自 AACR Project GENIE 和 cBioPortal 数据库的数据，采用 Fisher 精确检验、卡方检验和 Kaplan-Meier 分析，对按血统、发病年龄和 FOLFOX 治疗分层的 2,562 例结直肠癌病例进行了分析。为增强数据整合与解读，我们应用了 AI-HOPE 和 AI-HOPE-WNT/TGFbeta——这是旨在通过自然语言驱动的查询整合临床、基因组和治疗数据的对话式人工智能（AI）平台。结果：总生存分析显示，接受 FOLFOX 治疗且伴有 WNT 通路改变的早发性 AA 患者生存显著更佳（p = 0.035）。与未接受治疗者相比，接受 FOLFOX 治疗的晚发性 AA 患者中 WNT 通路改变较少见（80% 对 92%；p = 0.05）。同样，与未治疗病例相比，接受 FOLFOX 的晚发性非西班牙裔白人（NHW）患者中 TGF-beta 通路改变减少（23% 对 31%；p = 0.0005）。结论：化疗暴露可能影响跨血统和疾病分期的通路特异性突变频率。AI 赋能的整合分析凸显了对话式 AI 平台在加速生物标志物发现、揭示结直肠癌中血统和治疗特异性易感性方面的潜力。

查看英文原文 English abstract

Background: African Americans (AA) experience disproportionate burden of colorectal cancer. Dysregulation of the Wingless-related integration site (WNT) and transforming growth factor-beta (TGF-beta) pathways contributes to tumor progression, yet their prognostic roles in FOLFOX-treated CRC among AA patients remain understudied. Methods: We analyzed 2,562 colorectal cancer cases stratified by ancestry, age at onset, and FOLFOX treatment using Fisher's exact, chi-square, and Kaplan-Meier analyses from AACR Project GENIE and cBioPortal databases. To enhance data integration and interpretation, we applied AI-HOPE and AI-HOPE-WNT/TGFbeta, conversational artificial intelligence (AI) platforms designed to integrate clinical, genomic, and treatment data through natural language-driven queries. Results: Overall survival analyses showed that early-onset AA patients treated with FOLFOX who had WNT pathway alterations experienced significantly better survival (p = 0.035). WNT pathway alterations were less frequent in late-onset AA patients treated with FOLFOX compared to those not treated (80% vs. 92%; p = 0.05). Similarly, TGF-beta pathway alterations were reduced in late-onset non-Hispanic White (NHW) patients receiving FOLFOX compared to untreated cases (23% vs. 31%; p = 0.0005). Conclusions: Chemotherapy exposure may influence pathway-specific mutation frequencies across ancestry and disease stage. AI-enabled integrative analyses highlight the potential of conversational AI platforms to accelerate biomarker discovery and reveal ancestry- and treatment-specific vulnerabilities in colorectal cancer.

利益披露 Disclosure

T. Z. Minas, None.. B. Waldrup, None.. F. G. Carranza, None.. S. Manjarrez, None.. E. Velazquez-Villarreal, None.

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