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Record W4412787229 · doi:10.1038/s41467-025-61820-z

A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas

2025· article· en· W4412787229 on OpenAlexafffund
April A. Apfelbaum, Eric Morin, Dominik Sturm, Georges Ayoub, Jeromy J. Digiacomo, Sher Bahadur, Bhavyaa Chandarana, Phoebe C. Power, Margaret Cusick, Dana Novikov, P. B. Edwin Prabhakar, Robert E. Jones, Jayne Vogelzang, Connor C. Bossi, Seth Malinowski, Lewis Woodward, T. Alwyn Jones, John Jeang, Sarah W Lamson, Jared Collins, Ke Xia Cai, Se-hee Oh, Hyesung Jeon, Jinhua Wang, Amy Cameron, Patrick Rechter, Karthikeyan Murugesan, Meagan Montesion, Lee A. Albacker, Shakti Ramkissoon, Cornelis M. van Tilburg, Emily C. Hardin, Philipp Sievers, Felix Sahm, Kee Kiat Yeo, Tom Rosenberg, Susan Chi, Karen Wright, Steven Hébert, Sydney Peck, Alberto Pïcca, Valérie Larouche, Samuele Renzi, Sara J. Buhrlage, Tejus Bale, Amy Smith, Mehdi Touat, Nada Jabado, Eric S. Fischer, Michael J. Eck, Lissa Baird, Olaf Witt, Claudia L. Kleinman, Quang-Dé Nguyen, Denise Sheer, Sanda Alexandrescu, David Jones, Keith L. Ligon, Pratiti Bandopadhayay

Bibliographic record

VenueNature Communications · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer, Hypoxia, and Metabolism
Canadian institutionsCentre hospitalier universitaire de QuébecUniversité LavalMcGill UniversityJewish General Hospital
FundersNational Cancer InstituteFaculty of Medicine and Health, University of SydneyFonds de Recherche du Québec - SantéDeutsche KinderkrebsstiftungCancer Research UKBroad InstituteDamon Runyon Cancer Research FoundationQueen Mary University of LondonCanadian Institutes of Health ResearchPediatric Brain Tumor FoundationMcGill UniversityDana-Farber/Harvard Cancer CenterAlex's Lemonade Stand Foundation for Childhood Cancer
KeywordsGliomaMutationCancer researchMedicineBiologyComputational biologyGeneticsGene

Abstract

fetched live from OpenAlex

Oncogenic alterations in fibroblast growth factor receptor (FGFR)-family proteins occur across cancers, including pediatric gliomas. Our genomic analysis of 11,635 gliomas across ages finds that 5.3% of all gliomas harbor FGFR alterations, with an incidence of almost 9% in pediatric gliomas. Alterations in FGFR proteins are differentially enriched by age, tumor grade, and histology, with FGFR1 alterations associated with glioneuronal histologies. Leveraging isogenic systems, we confirm FGFR1 alterations to induce downstream Mitogen Activated Protein Kinase (MAPK) and mTOR signaling pathways, drive gliomagenesis, activate neuronal transcriptional programs and exhibit sensitivity to MAPK pathway and pan-FGFR inhibitors. Finally, we perform a retrospective analysis of clinical responses in children diagnosed with FGFR-altered gliomas and find that treatment with currently available inhibitors is largely associated with stability of disease. This study provides key insights into the biology of FGFR1-altered gliomas, therapeutic strategies to target them and associated challenges that still need to be overcome. A subset of pediatric gliomas harbour alterations in fibroblast growth factor receptor (FGFR)-family proteins. Here, the authors characterise the genomic landscape of 11,635 gliomas across ages and use isogenic model systems to explore the underlying biology of FGFR1-altered gliomas and potential therapeutic vulnerabilities.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.004

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.009
GPT teacher head0.302
Teacher spread0.293 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations8
Published2025
Admission routes2
Has abstractyes

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