arXiv:2509.12732cs.LGcs.CL2025-09

用AI预测癌症突变进展并推荐治疗,无需昂贵实验。

A Novel Recurrent Neural Network Framework for Prediction and Treatment of Oncogenic Mutation Progression

  • 结合时间序列模型与通路分析,端到端预测癌症发展。
  • 在TCGA数据上准确率超60%,接近现有诊断水平。
  • 可识别关键突变基因,适合临床辅助决策研究。

尽管医学进步显著,癌症仍是美国第二大死因,每年超60万例死亡。路径分析虽具前景,但依赖耗时的湿实验数据。本文提出一种高效、端到端的AI路径分析框架,可同时预测癌症严重程度和突变进展,并推荐可能治疗方案。从TCGA数据库提取突变序列后,采用新型预处理算法按突变频率筛选关键突变;该数据输入循环神经网络(RNN)以预测癌症严重程度;随后模型基于RNN输出、预处理信息及多个药物-靶点数据库,概率性预测未来突变并推荐治疗。框架在多个癌种中表现稳健,受试者工作特征曲线下面积(ROC-AUC)超过60%,接近现有诊断水平。预处理有效识别出每阶段癌症中约数百个关键驱动突变,与当前研究一致。生成的基因频率热图凸显各癌种中的关键突变。本研究首次实现无需依赖昂贵湿实验的癌症进展预测与治疗建议全流程自动化。

原文摘要 · Abstract (English)

Despite significant medical advancements, cancer remains the second leading cause of death, with over 600,000 deaths per year in the US. One emerging field, pathway analysis, is promising but still relies on manually derived wet lab data, which is time-consuming to acquire. This work proposes an efficient, effective end-to-end framework for Artificial Intelligence (AI) based pathway analysis that predicts both cancer severity and mutation progression, thus recommending possible treatments. The proposed technique involves a novel combination of time-series machine learning models and pathway analysis. First, mutation sequences were isolated from The Cancer Genome Atlas (TCGA) Database. Then, a novel preprocessing algorithm was used to filter key mutations by mutation frequency. This data was fed into a Recurrent Neural Network (RNN) that predicted cancer severity. Then, the model probabilistically used the RNN predictions, information from the preprocessing algorithm, and multiple drug-target databases to predict future mutations and recommend possible treatments. This framework achieved robust results and Receiver Operating Characteristic (ROC) curves (a key statistical metric) with accuracies greater than 60%, similar to existing cancer diagnostics. In addition, preprocessing played an instrumental role in isolating important mutations, demonstrating that each cancer stage studied may contain on the order of a few-hundred key driver mutations, consistent with current research. Heatmaps based on predicted gene frequency were also generated, highlighting key mutations in each cancer. Overall, this work is the first to propose an efficient, cost-effective end-to-end framework for projecting cancer progression and providing possible treatments without relying on expensive, time-consuming wet lab work.

癌症预测深度学习突变分析RNN

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