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. 2022 Dec 1;20(5):850–866. doi: 10.1016/j.gpb.2022.11.003

Table 3.

Publications relevant toMLon treatment response and survival prediction

Publication Feature extraction method Prediction model Sample size Data type Performance Validation method Feature selection/input Highlight/advantage Shortcoming
Jiang et al. [104] MRRN-based model MRRN-based model 1210 CT Images DSC (0.68–0.75) 5-fold cross-validation 3D image features The model can accurately track the tumor volume changes from CT images across multiple image resolutions The model does not predict accurately enough when the tumor size is small
Qureshi [106] NA RF; SVM; KNN; LDA; CART 201 Molecular structure and somatic mutations of EGFR Accuracy (0.975) 10-fold cross-validation 4 clinical features + 4 protein drug interaction features + 5 geometrical features The model integrates multiple features for data training, and achieves better performance than other benchmarked models Among the possible 594 EGFR mutations available in the COSMIC database, the model only considers the most common 33 EGFR mutations for model training
Kapil et al. [107] AC-GAN AC-GAN 270 Digital pathology images Lcc (0.94); Pcc (0.95); MAE (8.03) Hold-out PD-L1-stained tumor section histological slides The model achieves better performance than other benchmarked, fully supervised models In the experiments, the use of PD-L1 staining for TPS evaluation may not be accurate enough
Geeleher et al. [109] NA Ridge regression model 62 RNA-seq Accuracy (0.89) Leave-one-out cross-validation Removed low variable genes The model can accurately predict the drug response using RNA-seq profiles only The training sample size is small
Chen et al. [123] Chi-square test + NN NN 440 RNA-seq Accuracy (0.83) Hold-out RNA-seq of 5 genes The model uses multiple laboratory datasets for training to improve its robustness The model doesn’t consider demographic and clinical features, which may affect the prediction
LUADpp [125] Top genes with most significant mutation frequency difference SVM 371 Somatic mutations Accuracy (0.81) 5-fold cross-validation Somatic mutation features in 85 genes The model can predict with high accuracy with only seven gene mutation features Mutation frequency may be impacted by the sampling bias across datasets;
LD may also affect the feature selection
Cho et al. [126] Information gain; Chi-squared test; minimum redundancy maximum relevance; correlation algorithm NB; KNN; SVM; DT 471 Somatic mutations Accuracy (0.68–0.88) 5-fold cross-validation Somatic mutation features composed of 19 genes To improve performance, the model uses four different methods for feature selection The training cohort consists of only one dataset
Yu et al. [128] Information gain ratio; hierarchical clustering RF 538 Multi-omics (histology, pathology reports, RNA, proteomics) AUC (> 0.8) leave-one-out cross-validation 15 gene set features The study uses an integrative omics-pathology model to improve the accuracy in predicting patients’ prognosis Cox models may be overfitted in multiple-dimension data
Asada et al. [130] Autoencoder + 
Cox-PH + K-means + 
ANOVA
SVM 364 Multi-omics (miRNA, mRNA) Accuracy (0.81) Hold-out 20 miRNAs + 25 mRNAs The study uses ML algorithms to systematically model feature extraction from multi-omics datasets The model does not consider the impact of clinical and demographic variances in data training
Takahashi et al. [131] Autoencoder + 
Cox-PH + K-means + 
XGBoost/LightGBM
LR 483 Multi-omics (mRNA, somatic mutation, CNV, mythelation, RPPA) AUC (0.43–0.99 under different omics data) Hold-out 12 mRNAs, 3 miRNAs, 3 methylations,
5 CNVs, 3 somatic mutations, and 3 RPPA
The study uses ML algorithms to systematically model feature extraction from multi-omics datasets The datasets collected in this study contain uncommon samples between different omics datasets, which may cause bias in model evaluation
Wiesweg et al. [136] Lasso regression SVM 122 RNA-seq Significant hazard ratio differences Hold-out 7 genes from feature selection model + 
25 cell type-specific genes
The ML-based feature extraction model performs better than using any single immune marker for immunotherapy response prediction The metrics used in this study does not perceptual intuition. Using accuracy or AUC may be better
Trebeschi et al. [137] LR; RF LR; RF 262 CT imaging AUC (0.76–0.83) Hold-out 10 radiographic features The model can extract potential predictive CT-derived radiomic biomarkers to improve immunotherapy response prediction The predictive performance between different cancer types is not robust
Saltz et al. [142] CAE [143] VGG16 [144] + DeconvNet [145] 4612
(13 cancer types)
Histological images AUC (0.9544) Hold-out Image features of H&E-stained tumor section histological slides The model outperforms pathologists and other benchmarked models The predictive performance between different cancer types is not robust

Note: MRRN, resolution residually connected network; CART, classification and regression trees; AC-GAN, auxiliary classifier generative adversarial networks; Lcc, Lin’s concordance coefficient; Pcc, Pearson correlation coefficient; MAE, mean absolute error; TPS, tumor proportional scoring; LD, linkage disequilibrium; Cox-PH, Cox proportional-hazards; ANOVA, analysis of variance; miRNA, microRNA; RPPA, reverse phase protein array; CAE, convolutional autoencoder; mRNA, messenger RNA; PD-L1, programmed cell death 1 ligand 1; COSMIC, the Catalogue Of Somatic Mutations In Cancer; EGFR, epidermal growth factor receptor. Compared with hold-out, cross-validation is usually more robust, and accounts for more variance between possible splits in training, validation, and test data. However, cross-validation is more time consuming than using the simple holdout method.