Effect of Somatic Mutations in Glioblastoma Multiforme on Patient Survival

AJAS · 2025 Biomedical and Health Sciences (inferred)

Overview

Glioblastoma multiforme is one of the deadliest forms of brain tumors. Many genes are associated with its formation, progression, and survival, but no consensus has been reached on which somatic mutations most significantly impact survival. This study hypothesized that patients with increased age at diagnosis, EGRF mutations, and no mutations in the IDH1, ATRX, and RB1 genes would have significantly (p ≤ 0.05) lower survival. Cox Proportional Hazards (COXPH) models are used to predict survival after diagnosis based on tumor mutational profiling. The models analyzed 499 genes and their respective somatic mutation status from 280 individuals using a derived dataset from the TCGA database of the National Cancer Institute posted on Kaggle (https://www.kaggle.com/datasets/palashio/glioblastomamutations). A univariate COXPH model was first implemented for each gene and clinical characteristic to find features that had a significant (p ≤ 0.05) effect on survival. After splitting the dataset into training and testing groups using a 70-30 split, a multivariate COXPH model was composed of 11 significant genes and 2 clinical characteristics from the univariate analysis. It was evaluated using the concordance index (0.67) and time-dependent receiver operating characteristic curves and their respective area under the curve (AUC) at 100 days (AUC=0.67), 300 days (AUC=0.74), and 500 days (AUC=0.76). The effect of each significant gene and clinical characteristic from the multivariate model was further evaluated using Kaplan-Meier curves where the effect of NLRP4 and Age at Diagnosis on survival was validated.

Competition history

  • AJAS 2025 Category not listed

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Source: AAAS Annual Meeting (Confex) / American Junior Academy of Science

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