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Record W4402019552 · doi:10.1101/2024.08.27.609922

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

2024· preprint· en· W4402019552 on OpenAlexaff
Eric Morin, April A. Apfelbaum, Dominik Sturm, Georges Ayoub, Jeromy J. Digiacomo, Sher Bahadur, Bhavyaa Chandarana, Phoebe C. Power, Margaret Cusick, Dana Novikov, Robert T. Jones, Jayne Vogelzang, Connor C. Bossi, Seth Malinowski, John Jeang, Jared Collins, Se-hee Oh, Hyesung Jeon, Amy Cameron, Patrick Rechter, Angela Deleon, 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, Steve Hébert, Sydney Peck, Alberto Pïcca, Valérie Larouche, Samuele Renzi, Tejus Bale, Amy Smith, Mehdi Touat, Nada Jabado, Eric S. Fischer, Michael J. Eck, Lissa Baird, Olaf Witt, Claudia L. Kleinman, Quang‐Dé Nguyen, Sanda Alexandrescu, David Jones, Keith L. Ligon, Pratiti Bandopadhayay

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2024
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicFibroblast Growth Factor Research
Canadian institutionsCentre hospitalier universitaire de QuébecUniversité LavalJewish General HospitalMcGill University
Fundersnot available
KeywordsFibroblast growth factor receptorFibroblast growth factor receptor 1GliomaMAPK/ERK pathwayCancer researchBiologyPI3K/AKT/mTOR pathwayFibroblast growth factorMutationSignal transductionBioinformaticsReceptorMedicineGeneGenetics

Abstract

fetched live from OpenAlex

Abstract Alterations in Fibroblast growth factor receptor (FGFR)-family proteins frequently occur as oncogenes in many cancers, including a subset of pediatric gliomas. Here, we performed a genomic analysis of 11,635 gliomas across ages and found that 4.5% of all gliomas harbor FGFR alterations including structural variants (SV) and single nucleotide variants (SNV), with an incidence of almost 10% in pediatric gliomas. FGFR family members are differentially enriched by age, tumor grade, and histological subtype, with FGFR1-alterations associated with glioneuronal histologies and pediatric low-grade gliomas. Across development, we find FGFR1 expression in both neuronal and glial precursors, while FGFR3 expression is largely restricted to astrocytic lineages. Leveraging novel isogenic model systems, we confirm FGFR1 alterations to be sufficient to activate MAPK and mTOR signaling, drive gliomagenesis, activate neuronal transcriptional programs and exhibit sensitivity to MAPK pathway inhibitors, including pan-FGFR inhibitors. Models driven by FGFR1 SVs exhibited different patterns of sensitivity compared to those driven by SNVs. Finally, we performed a retrospective analysis of clinical responses in children diagnosed with FGFR-driven gliomas and found that targeted MAPK or FGFR-inhibition 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.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.370
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.018
GPT teacher head0.267
Teacher spread0.249 · 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 teacher head, not a consensus.

Study designBench or experimental
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

Citations4
Published2024
Admission routes1
Has abstractyes

Explore more

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