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基于深度学习和组织形态学分析的肺癌基因突变预测

[Prediction of gene mutation in lung cancer based on deep learning and histomorphology analysis].

作者信息

Wang Quan, Shen Qin, Zhang Zelin, Cai Chengfei, Lu Haoda, Zhou Xiaojun, Xu Jun

机构信息

School of Automation, Nanjing University of Information Science and Technology, Nanjing 210044, P.R.China;Jiangsu Key Laboratory of Large Data Analysis Technology, Nanjing 210044, P.R.China.

Department of Pathology, Nanjing General Hospital, Nanjing 210002, P.R.China.

出版信息

Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2020 Feb 25;37(1):10-18. doi: 10.7507/1001-5515.201904018.

Abstract

Lung cancer is a most common malignant tumor of the lung and is the cancer with the highest morbidity and mortality worldwide. For patients with advanced non-small cell lung cancer who have undergone epidermal growth factor receptor (EGFR) gene mutations, targeted drugs can be used for targeted therapy. There are many methods for detecting EGFR gene mutations, but each method has its own advantages and disadvantages. This study aims to predict the risk of EGFR gene mutation by exploring the association between the histological features of the whole slides pathology of non-small cell lung cancer hematoxylin-eosin (HE) staining and the patient's EGFR mutant gene. The experimental results show that the area under the curve (AUC) of the EGFR gene mutation risk prediction model proposed in this paper reached 72.4% on the test set, and the accuracy rate was 70.8%, which reveals the close relationship between histomorphological features and EGFR gene mutations in the whole slides pathological images of non-small cell lung cancer. In this paper, the molecular phenotypes were analyzed from the scale of the whole slides pathological images, and the combination of pathology and molecular omics was used to establish the EGFR gene mutation risk prediction model, revealing the correlation between the whole slides pathological images and EGFR gene mutation risk. It could provide a promising research direction for this field.

摘要

肺癌是肺部最常见的恶性肿瘤,也是全球发病率和死亡率最高的癌症。对于已经发生表皮生长因子受体(EGFR)基因突变的晚期非小细胞肺癌患者,可以使用靶向药物进行靶向治疗。检测EGFR基因突变的方法有很多,但每种方法都有其优缺点。本研究旨在通过探索非小细胞肺癌苏木精-伊红(HE)染色全切片病理组织学特征与患者EGFR突变基因之间的关联,预测EGFR基因突变风险。实验结果表明,本文提出的EGFR基因突变风险预测模型在测试集上的曲线下面积(AUC)达到72.4%,准确率为70.8%,揭示了非小细胞肺癌全切片病理图像中组织形态学特征与EGFR基因突变之间的密切关系。本文从全切片病理图像尺度分析分子表型,采用病理学与分子组学相结合的方法建立EGFR基因突变风险预测模型,揭示了全切片病理图像与EGFR基因突变风险之间的相关性。这为该领域提供了一个有前景的研究方向。

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