Document Type

Article

Publication Date

5-9-2025

Keywords

JGM, SS1, Humans, Glioblastoma, Brain Neoplasms, Gene Expression Regulation, Neoplastic, Isocitrate Dehydrogenase, Transcription, Genetic, Transcriptome, Gene Expression Profiling

JAX Source

Nat Genet. 2025;57(5):1155-67.

ISSN

1546-1718

PMID

40346361

DOI

https://doi.org/10.1038/s41588-025-02167-5

Abstract

In isocitrate dehydrogenase wildtype glioblastoma (GBM), cellular heterogeneity across and within tumors may drive therapeutic resistance. Here we analyzed 121 primary and recurrent GBM samples from 59 patients using single-nucleus RNA sequencing and bulk tumor DNA sequencing to characterize GBM transcriptional heterogeneity. First, GBMs can be classified by their broad cellular composition, encompassing malignant and nonmalignant cell types. Second, in each cell type we describe the diversity of cellular states and their pathway activation, particularly an expanded set of malignant cell states, including glial progenitor cell-like, neuronal-like and cilia-like. Third, the remaining variation between GBMs highlights three baseline gene expression programs. These three layers of heterogeneity are interrelated and partially associated with specific genetic aberrations, thereby defining three stereotypic GBM ecosystems. This work provides an unparalleled view of the multilayered transcriptional architecture of GBM. How this architecture evolves during disease progression is addressed in the companion manuscript by Spitzer et al.

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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