arXiv:2508.02431eess.IVcs.CV2025-08中稿 · MICCAI 2025 Worksh…

用高效模型同时识别肺癌6种关键突变,提升检测速度与准确性。

Identifying actionable driver mutations in lung cancer using an efficient Asymmetric Transformer Decoder

  • 设计异构变压器解码器,降低查询维度,减少过拟合风险。
  • 在6种突变上平均超越顶尖模型3%,罕见突变超4%。
  • 可直接利用组织类型信息,更贴合临床病理实际。

在非小细胞肺癌(NSCLC)中识别可用药驱动突变能显著影响治疗决策并改善患者预后。尽管指南推荐广泛开展基因检测,但受限于检测资源不足和报告周期长,实际推广仍面临挑战。计算病理学(CPath)中的机器学习方法提供潜在解决方案,但现有研究多仅聚焦1-2个常见突变,限制了工具的临床价值和受益人群范围。本研究评估多种多实例学习(MIL)技术,用于检测六种关键可用药突变:ALK、BRAF、EGFR、ERBB2、KRAS 及 MET ex14。此外,提出一种异构变压器解码器模型,通过不同维度的查询与键值对,保持低查询维度,高效提取图像块嵌入特征,并降低过拟合风险,表现出对MIL场景的高度适应性。我们还提出一种直接引入组织类型信息的方法,克服传统MIL中仅分析全部或特定区域而忽略生物学意义的局限。所提方法在平均性能上超越现有顶尖MIL模型3%,在预测稀有突变如ERBB2和BRAF时提升超过4%,使基于机器学习的检测更接近替代标准基因检测的实际应用。

原文摘要 · Abstract (English)

Identifying actionable driver mutations in non-small cell lung cancer (NSCLC) can impact treatment decisions and significantly improve patient outcomes. Despite guideline recommendations, broader adoption of genetic testing remains challenging due to limited availability and lengthy turnaround times. Machine Learning (ML) methods for Computational Pathology (CPath) offer a potential solution; however, research often focuses on only one or two common mutations, limiting the clinical value of these tools and the pool of patients who can benefit from them. This study evaluates various Multiple Instance Learning (MIL) techniques to detect six key actionable NSCLC driver mutations: ALK, BRAF, EGFR, ERBB2, KRAS, and MET ex14. Additionally, we introduce an Asymmetric Transformer Decoder model that employs queries and key-values of varying dimensions to maintain a low query dimensionality. This approach efficiently extracts information from patch embeddings and minimizes overfitting risks, proving highly adaptable to the MIL setting. Moreover, we present a method to directly utilize tissue type in the model, addressing a typical MIL limitation where either all regions or only some specific regions are analyzed, neglecting biological relevance. Our method outperforms top MIL models by an average of 3%, and over 4% when predicting rare mutations such as ERBB2 and BRAF, moving ML-based tests closer to being practical alternatives to standard genetic testing.

肺癌突变多实例学习变压器模型计算病理

Thank you to arXiv for use of its open access interoperability. PaperDance 不是 arXiv 官方产品;中文卡片由大模型生成,请以原文为准。