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基于机器学习方法的鼻咽癌基因特征构建诊断和预后模型。

Construction of diagnostic and prognostic models based on gene signatures of nasopharyngeal carcinoma by machine learning methods.

作者信息

Wang Yiren, He Yongcheng, Duan Xiaodong, Pang Haowen, Zhou Ping

机构信息

School of Nursing, Southwest Medical University, Luzhou, China.

Department of Radiology, The Affiliated Hospital of Southwest Medical University, Luzhou, China.

出版信息

Transl Cancer Res. 2023 May 31;12(5):1254-1269. doi: 10.21037/tcr-22-2700. Epub 2023 Apr 10.

Abstract

BACKGROUND

Diagnostic models based on gene signatures of nasopharyngeal carcinoma (NPC) were constructed by random forest (RF) and artificial neural network (ANN) algorithms. Least absolute shrinkage and selection operator (Lasso)-Cox regression was used to select and build prognostic models based on gene signatures. This study contributes to the early diagnosis and treatment, prognosis, and molecular mechanisms associated with NPC.

METHODS

Two gene expression datasets were downloaded from the Gene Expression Omnibus (GEO) database, and differentially expressed genes (DEGs) associated with NPC were identified by gene expression differential analysis. Subsequently, significant DEGs were identified by a RF algorithm. ANN were used to construct a diagnostic model for NPC. The performance of the diagnostic model was evaluated by area under the curve (AUC) values using a validation set. Lasso-Cox regression examined gene signatures associated with prognosis. Overall survival (OS) and disease-free survival (DFS) prediction models were constructed and validated from The Cancer Genome Atlas (TCGA) database and the International Cancer Genome Consortium (ICGC) database.

RESULTS

A total of 582 DEGs associated with NPC were identified, and 14 significant genes were identified by the RF algorithm. A diagnostic model for NPC was successfully constructed using ANN, and the validity of the model was confirmed on the training set AUC =0.947 [95% confidence interval (CI): 0.911-0.969] and the validation set AUC =0.864 (95% CI: 0.828-0.901). The 24-gene signatures associated with prognosis were identified by Lasso-Cox regression, and prediction models for OS and DFS of NPC were constructed on the training set. Finally, the ability of the model was validated on the validation set.

CONCLUSIONS

Several potential gene signatures associated with NPC were identified, and a high-performance predictive model for early diagnosis of NPC and a prognostic prediction model with robust performance were successfully developed. The results of this study provide valuable references for early diagnosis, screening, treatment and molecular mechanism research of NPC in the future.

摘要

背景

基于鼻咽癌(NPC)基因特征的诊断模型通过随机森林(RF)和人工神经网络(ANN)算法构建。采用最小绝对收缩和选择算子(Lasso)-Cox回归基于基因特征选择并建立预后模型。本研究有助于鼻咽癌的早期诊断与治疗、预后评估及分子机制研究。

方法

从基因表达综合数据库(GEO)下载两个基因表达数据集,通过基因表达差异分析鉴定与鼻咽癌相关的差异表达基因(DEG)。随后,利用RF算法鉴定显著的DEG。使用ANN构建鼻咽癌诊断模型。采用验证集的曲线下面积(AUC)值评估诊断模型的性能。Lasso-Cox回归分析与预后相关的基因特征。从癌症基因组图谱(TCGA)数据库和国际癌症基因组联盟(ICGC)数据库构建并验证总生存期(OS)和无病生存期(DFS)预测模型。

结果

共鉴定出582个与鼻咽癌相关的DEG,通过RF算法确定了14个显著基因。使用ANN成功构建了鼻咽癌诊断模型,该模型在训练集的AUC = 0.947 [95%置信区间(CI):0.911 - 0.969]以及验证集的AUC = 0.864(95% CI:0.828 - 0.901)上得到了验证。通过Lasso-Cox回归鉴定出与预后相关的24个基因特征,并在训练集上构建了鼻咽癌OS和DFS的预测模型。最后,在验证集上验证了该模型的能力。

结论

鉴定出了几个与鼻咽癌相关的潜在基因特征,成功开发了用于鼻咽癌早期诊断的高性能预测模型和性能稳健的预后预测模型。本研究结果为未来鼻咽癌的早期诊断、筛查、治疗及分子机制研究提供了有价值的参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6cf/10248568/b9f9d866174c/tcr-12-05-1254-f1.jpg

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