arXiv:2511.03365eess.IVcs.CV2025-11

用病理图像预测卵巢癌分型和基因突变,准确率超80%

Morpho-Genomic Deep Learning for Ovarian Cancer Subtype and Gene Mutation Prediction from Histopathology

  • 融合细胞形态与图像特征的深度学习模型
  • 分型准确率达84.2%,关键基因突变预测AUC超0.73
  • 揭示核形态与TP53突变的定量关联,适合临床辅助诊断

卵巢癌是致死率最高的妇科恶性肿瘤之一,主要因诊断延迟及亚型间高度异质性。现有诊断方法难以揭示精准肿瘤学所需的关键基因变异。本研究提出一种新型混合深度学习流程,结合定量核形态特征与深度卷积图像特征,直接从苏木精-伊红(H&E)病理图像中实现卵巢癌亚型分类与基因突变推断。基于约4.5万张来自TCGA及公开数据集的图像块,构建了融合ResNet-50 CNN编码器与视觉变换器(ViT)的模型,有效捕捉局部形态纹理与全局组织上下文。该流程在亚型分类上取得84.2%的整体准确率(宏平均AUC为0.87±0.03)。关键成果在于基因突变推断能力:TP53突变预测AUC达0.82±0.02,BRCA1为0.76±0.04,ARID1A为0.73±0.05。特征重要性分析显示,核固有度与偏心率是预测TP53突变的主要因素。结果表明,可量化的组织学表型蕴含可测量的基因信号,为低成本、精准的卵巢癌病理分诊与诊断开辟新路径。

原文摘要 · Abstract (English)

Ovarian cancer remains one of the most lethal gynecological malignancies, largely due to late diagnosis and extensive heterogeneity across subtypes. Current diagnostic methods are limited in their ability to reveal underlying genomic variations essential for precision oncology. This study introduces a novel hybrid deep learning pipeline that integrates quantitative nuclear morphometry with deep convolutional image features to perform ovarian cancer subtype classification and gene mutation inference directly from Hematoxylin and Eosin (H&E) histopathological images. Using $\sim45,000$ image patches sourced from The Cancer Genome Atlas (TCGA) and public datasets, a fusion model combining a ResNet-50 Convolutional Neural Network (CNN) encoder and a Vision Transformer (ViT) was developed. This model successfully captured both local morphological texture and global tissue context. The pipeline achieved a robust overall subtype classification accuracy of $84.2\%$ (Macro AUC of $0.87 \pm 0.03$). Crucially, the model demonstrated the capacity for gene mutation inference with moderate-to-high accuracy: $AUC_{TP53} = 0.82 \pm 0.02$, $AUC_{BRCA1} = 0.76 \pm 0.04$, and $AUC_{ARID1A} = 0.73 \pm 0.05$. Feature importance analysis established direct quantitative links, revealing that nuclear solidity and eccentricity were the dominant predictors for TP53 mutation. These findings validate that quantifiable histological phenotypes encode measurable genomic signals, paving the way for cost-effective, precision histopathology in ovarian cancer triage and diagnosis.

病理图像基因预测深度学习卵巢癌

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。