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arXiv 2511.03365eess.IVcs.CVq-bio.QM
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面向卵巢癌亚型与基因突变预测的组织病理学形态-基因组深度学习

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

Department of Periodontics and Endodontics, Department of Oral Biology, State University of New York (SUNY) at Buffalo(牙科医学系与口腔生物学系,纽约州立大学(SUNY)布法罗分校)

Gabriela Fernandes

AI总结:

本研究提出一种融合细胞核形态计量与ResNet-50和ViT的混合深度学习流程,直接从H&E图像预测卵巢癌亚型及TP53、BRCA1、ARID1A等基因突变,验证了组织学表型可编码基因组信号。

摘要:

卵巢癌仍然是最致命的妇科恶性肿瘤之一,主要原因是诊断较晚以及不同亚型之间广泛的异质性。当前的诊断方法在揭示精准肿瘤学所需的基础基因组变异方面能力有限。本研究提出了一种新型混合深度学习流程,将定量细胞核形态计量与深度卷积图像特征相结合,直接从苏木精-伊红(H&E)组织病理学图像中进行卵巢癌亚型分类和基因突变推断。利用来自癌症基因组图谱(TCGA)和公共数据集的约45,000个图像块,开发了一个融合ResNet-50卷积神经网络(CNN)编码器和Vision Transformer(ViT)的融合模型。该模型成功捕获了局部形态纹理和全局组织上下文。该流程实现了84.2%的稳健总体亚型分类准确率(宏观AUC为0.87±0.03)。关键的是,该模型展示了中高准确率的基因突变推断能力:AUC_TP53=0.82±0.02,AUC_BRCA1=0.76±0.04,AUC_ARID1A=0.73±0.05。特征重要性分析建立了直接的定量联系,揭示细胞核实心度和偏心率是TP53突变的主要预测因子。这些发现验证了可量化的组织学表型编码了可测量的基因组信号,为卵巢癌分诊和诊断中具有成本效益的精准组织病理学铺平了道路。

英文摘要:

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.

机构、总结、中文摘要均由AI分析而来,可能存在错误,请以论文正文为准。

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