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1.
Comput Biol Med ; 174: 108398, 2024 May.
Article in English | MEDLINE | ID: mdl-38608322

ABSTRACT

The recurrence of low-stage lung cancer poses a challenge due to its unpredictable nature and diverse patient responses to treatments. Personalized care and patient outcomes heavily rely on early relapse identification, yet current predictive models, despite their potential, lack comprehensive genetic data. This inadequacy fuels our research focus-integrating specific genetic information, such as pathway scores, into clinical data. Our aim is to refine machine learning models for more precise relapse prediction in early-stage non-small cell lung cancer. To address the scarcity of genetic data, we employ imputation techniques, leveraging publicly available datasets such as The Cancer Genome Atlas (TCGA), integrating pathway scores into our patient cohort from the Cancer Long Survivor Artificial Intelligence Follow-up (CLARIFY) project. Through the integration of imputed pathway scores from the TCGA dataset with clinical data, our approach achieves notable strides in predicting relapse among a held-out test set of 200 patients. By training machine learning models on enriched knowledge graph data, inclusive of triples derived from pathway score imputation, we achieve a promising precision of 82% and specificity of 91%. These outcomes highlight the potential of our models as supplementary tools within tumour, node, and metastasis (TNM) classification systems, offering improved prognostic capabilities for lung cancer patients. In summary, our research underscores the significance of refining machine learning models for relapse prediction in early-stage non-small cell lung cancer. Our approach, centered on imputing pathway scores and integrating them with clinical data, not only enhances predictive performance but also demonstrates the promising role of machine learning in anticipating relapse and ultimately elevating patient outcomes.


Subject(s)
Carcinoma, Non-Small-Cell Lung , Genomics , Lung Neoplasms , Machine Learning , Humans , Lung Neoplasms/genetics , Carcinoma, Non-Small-Cell Lung/genetics , Genomics/methods , Neoplasm Recurrence, Local/genetics , Female , Male , Databases, Genetic
2.
J Biomed Inform ; 144: 104424, 2023 08.
Article in English | MEDLINE | ID: mdl-37352900

ABSTRACT

OBJECTIVE: Lung cancer exhibits unpredictable recurrence in low-stage tumors and variable responses to different therapeutic interventions. Predicting relapse in early-stage lung cancer can facilitate precision medicine and improve patient survivability. While existing machine learning models rely on clinical data, incorporating genomic information could enhance their efficiency. This study aims to impute and integrate specific types of genomic data with clinical data to improve the accuracy of machine learning models for predicting relapse in early-stage, non-small cell lung cancer patients. METHODS: The study utilized a publicly available TCGA lung cancer cohort and imputed genetic pathway scores into the Spanish Lung Cancer Group (SLCG) data, specifically in 1348 early-stage patients. Initially, tumor recurrence was predicted without imputed pathway scores. Subsequently, the SLCG data were augmented with pathway scores imputed from TCGA. The integrative approach aimed to enhance relapse risk prediction performance. RESULTS: The integrative approach achieved improved relapse risk prediction with the following evaluation metrics: an area under the precision-recall curve (PR-AUC) score of 0.75, an area under the ROC (ROC-AUC) score of 0.80, an F1 score of 0.61, and a Precision of 0.80. The prediction explanation model SHAP (SHapley Additive exPlanations) was employed to explain the machine learning model's predictions. CONCLUSION: We conclude that our explainable predictive model is a promising tool for oncologists that addresses an unmet clinical need of post-treatment patient stratification based on the relapse risk while also improving the predictive power by incorporating proxy genomic data not available for specific patients.


Subject(s)
Carcinoma, Non-Small-Cell Lung , Lung Neoplasms , Small Cell Lung Carcinoma , Humans , Carcinoma, Non-Small-Cell Lung/diagnosis , Carcinoma, Non-Small-Cell Lung/genetics , Lung Neoplasms/diagnosis , Lung Neoplasms/genetics , Neoplasm Recurrence, Local/genetics , Lung
3.
AMIA Annu Symp Proc ; 2022: 1062-1071, 2022.
Article in English | MEDLINE | ID: mdl-37128408

ABSTRACT

Early-stage lung cancer is crucial clinically due to its insidious nature and rapid progression. Most of the prediction models designed to predict tumour recurrence in the early stage of lung cancer rely on the clinical or medical history of the patient. However, their performance could likely be improved if the input patient data contained genomic information. Unfortunately, such data is not always collected. This is the main motivation of our work, in which we have imputed and integrated specific type of genomic data with clinical data to increase the accuracy of machine learning models for prediction of relapse in early-stage, non-small cell lung cancer patients. Using a publicly available TCGA lung adenocarcinoma cohort of 501 patients, their aneuploidy scores were imputed into similar records in the Spanish Lung Cancer Group (SLCG) data, more specifically a cohort of 1348 early-stage patients. First, the tumor recurrence in those patients was predicted without the imputed aneuploidy scores. Then, the SLCG data were enriched with the aneuploidy scores imputed from TCGA. This integrative approach improved the prediction of the relapse risk, achieving area under the precision-recall curve (PR-AUC) score of 0.74, and area under the ROC (ROC-AUC) score of 0.79. Using the prediction explanation model SHAP (SHapley Additive exPlanations), we further explained the predictions performed by the machine learning model. We conclude that our explainable predictive model is a promising tool for oncologists that addresses an unmet clinical need of post-treatment patient stratification based on the relapse risk, while also improving the predictive power by incorporating proxy genomic data not available for the actual specific patients.


Subject(s)
Carcinoma, Non-Small-Cell Lung , Lung Neoplasms , Humans , Carcinoma, Non-Small-Cell Lung/genetics , Neoplasm Recurrence, Local , Genomics
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