Comprehensive Characterization of Somatic Mutations and Gene Expression on TP53/PTEN DKO Murine Glioblastoma Cell Lines: Insights from Whole-Exome and RNA-seq Analysis

Late-stage malignant murine glioblastoma (mGB) shows increased replication- and mismatch repair–linked mutational signatures, with SBS26 ranking in the top five across all samples.

• Why it matters: Understanding how TP53/PTEN double-knockout glioblastoma evolves from early transformed neural stem cells to malignant, therapy-resistant disease requires linking mutation processes to transcriptional reprogramming.
• What they did: The study performed integrated whole-exome sequencing and RNA-seq on early-stage tNSC and late-stage mGB, comparing mutational signatures and variant sets, including Ti/Tv ratio and differential gene expression versus ctrlNSCs.
• The result: tNSCs display stress- and development-associated signatures (SBS4, SBS40) and early instability, while mGB shifts toward SBS5 and SBS26 and partially restores expression toward ctrlNSCs with malignant upregulation.

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