Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial Intelligence

<i>Background and Objectives</i>: Liver cancer ranks among the leading causes of cancer-related mortality, necessitating the development of novel diagnostic methods. Deregulated lipid metabolism, a hallmark of hepatocarcinogenesis, offers compelling prospects for biomarker identification...

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Main Authors: Cemil Colak, Fatma Hilal Yagin, Abdulmohsen Algarni, Ali Algarni, Fahaid Al-Hashem, Luca Paolo Ardigò
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:Medicina
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Online Access:https://www.mdpi.com/1648-9144/61/3/405
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author Cemil Colak
Fatma Hilal Yagin
Abdulmohsen Algarni
Ali Algarni
Fahaid Al-Hashem
Luca Paolo Ardigò
author_facet Cemil Colak
Fatma Hilal Yagin
Abdulmohsen Algarni
Ali Algarni
Fahaid Al-Hashem
Luca Paolo Ardigò
author_sort Cemil Colak
collection DOAJ
description <i>Background and Objectives</i>: Liver cancer ranks among the leading causes of cancer-related mortality, necessitating the development of novel diagnostic methods. Deregulated lipid metabolism, a hallmark of hepatocarcinogenesis, offers compelling prospects for biomarker identification. This study aims to employ explainable artificial intelligence (XAI) to identify lipidomic biomarkers for liver cancer and to develop a robust predictive model for early diagnosis. <i>Materials and Methods</i>: This study included 219 patients diagnosed with liver cancer and 219 healthy controls. Serum samples underwent untargeted lipidomic analysis with LC-QTOF-MS. Lipidomic data underwent univariate and multivariate analyses, including fold change (FC), <i>t</i>-tests, PLS-DA, and Elastic Network feature selection, to identify significant biomarker candidate lipids. Machine learning models (AdaBoost, Random Forest, Gradient Boosting) were developed and evaluated utilizing these biomarkers to differentiate liver cancer. The AUC metric was employed to identify the optimal predictive model, whereas SHAP was utilized to achieve interpretability of the model’s predictive decisions. <i>Results</i>: Notable alterations in lipid profiles were observed: decreased sphingomyelins (SM d39:2, SM d41:2) and increased fatty acids (FA 14:1, FA 22:2) and phosphatidylcholines (PC 34:1, PC 32:1). AdaBoost exhibited a superior classification performance, achieving an AUC of 0.875. SHAP identified PC 40:4 as the most efficacious lipid for model predictions. The SM d41:2 and SM d36:3 lipids were specifically associated with an increased risk of low-onset cancer and elevated levels of the PC 40:4 lipid. <i>Conclusions</i>: This study demonstrates that untargeted lipidomics, in conjunction with explainable artificial intelligence (XAI) and machine learning, may effectively identify biomarkers for the early detection of liver cancer. The results suggest that alterations in lipid metabolism are crucial to the progression of liver cancer and provide valuable insights for incorporating lipidomics into precision oncology.
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spelling doaj-art-7adfca23852842d89a1e5f724e863c982025-08-20T02:42:22ZengMDPI AGMedicina1010-660X1648-91442025-02-0161340510.3390/medicina61030405Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial IntelligenceCemil Colak0Fatma Hilal Yagin1Abdulmohsen Algarni2Ali Algarni3Fahaid Al-Hashem4Luca Paolo Ardigò5Department of Biostatistics, and Medical Informatics, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Biostatistics, and Medical Informatics, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Computer Science, King Khalid University, Abha 61421, Saudi ArabiaDepartment of Informatics and Computer Systems, College of Computer Science, King Khalid University, Abha 61421, Saudi ArabiaDepartment of Physiology, College of Medicine, King Khalid University, Abha 61421, Saudi ArabiaDepartment of Teacher Education, NLA University College, Linstows Gate 3, 0166 Oslo, Norway<i>Background and Objectives</i>: Liver cancer ranks among the leading causes of cancer-related mortality, necessitating the development of novel diagnostic methods. Deregulated lipid metabolism, a hallmark of hepatocarcinogenesis, offers compelling prospects for biomarker identification. This study aims to employ explainable artificial intelligence (XAI) to identify lipidomic biomarkers for liver cancer and to develop a robust predictive model for early diagnosis. <i>Materials and Methods</i>: This study included 219 patients diagnosed with liver cancer and 219 healthy controls. Serum samples underwent untargeted lipidomic analysis with LC-QTOF-MS. Lipidomic data underwent univariate and multivariate analyses, including fold change (FC), <i>t</i>-tests, PLS-DA, and Elastic Network feature selection, to identify significant biomarker candidate lipids. Machine learning models (AdaBoost, Random Forest, Gradient Boosting) were developed and evaluated utilizing these biomarkers to differentiate liver cancer. The AUC metric was employed to identify the optimal predictive model, whereas SHAP was utilized to achieve interpretability of the model’s predictive decisions. <i>Results</i>: Notable alterations in lipid profiles were observed: decreased sphingomyelins (SM d39:2, SM d41:2) and increased fatty acids (FA 14:1, FA 22:2) and phosphatidylcholines (PC 34:1, PC 32:1). AdaBoost exhibited a superior classification performance, achieving an AUC of 0.875. SHAP identified PC 40:4 as the most efficacious lipid for model predictions. The SM d41:2 and SM d36:3 lipids were specifically associated with an increased risk of low-onset cancer and elevated levels of the PC 40:4 lipid. <i>Conclusions</i>: This study demonstrates that untargeted lipidomics, in conjunction with explainable artificial intelligence (XAI) and machine learning, may effectively identify biomarkers for the early detection of liver cancer. The results suggest that alterations in lipid metabolism are crucial to the progression of liver cancer and provide valuable insights for incorporating lipidomics into precision oncology.https://www.mdpi.com/1648-9144/61/3/405liver cancerlipidomicsbiomarkersmachine learningSHAPprecision medicine
spellingShingle Cemil Colak
Fatma Hilal Yagin
Abdulmohsen Algarni
Ali Algarni
Fahaid Al-Hashem
Luca Paolo Ardigò
Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial Intelligence
Medicina
liver cancer
lipidomics
biomarkers
machine learning
SHAP
precision medicine
title Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial Intelligence
title_full Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial Intelligence
title_fullStr Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial Intelligence
title_full_unstemmed Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial Intelligence
title_short Untargeted Lipidomic Biomarkers for Liver Cancer Diagnosis: A Tree-Based Machine Learning Model Enhanced by Explainable Artificial Intelligence
title_sort untargeted lipidomic biomarkers for liver cancer diagnosis a tree based machine learning model enhanced by explainable artificial intelligence
topic liver cancer
lipidomics
biomarkers
machine learning
SHAP
precision medicine
url https://www.mdpi.com/1648-9144/61/3/405
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AT abdulmohsenalgarni untargetedlipidomicbiomarkersforlivercancerdiagnosisatreebasedmachinelearningmodelenhancedbyexplainableartificialintelligence
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