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Record W4415731592 · doi:10.1038/s44318-025-00600-3

Concurrence of FGFR1 mutations modulates oncogenesis in glioneuronal tumors

2025· article· en· W4415731592 on OpenAlexafffund
Jacopo Boni, Míriam Fernandez‐González, HyeRim Han, Carla Roca, Cassandra J. Wong, Cristina Rioja, Clara Nogué, Leticia Manen-Freixa, Jonathan Boulais, Endika Torres-Urtizberea, Antonio Gómez, Martin Hasselblatt, Roger Estrada‐Tejedor, Albert A. Antolín, Islam E. Elkholi, Nada Jabado, Jean‐François Côté, Anne‐Claude Gingras, Bárbara Rivera

Bibliographic record

VenueThe EMBO Journal · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicFibroblast Growth Factor Research
Canadian institutionsJewish General HospitalUniversity of TorontoUniversité de MontréalMcGill UniversityMcGill Genome CentreSinai Health SystemMontreal Clinical Research InstituteLunenfeld-Tanenbaum Research InstituteMount Sinai Hospital
FundersFonds de Recherche du Québec - SantéFonds de recherche du QuébecAgència de Gestió d'Ajuts Universitaris i de RecercaGeneralitat de CatalunyaSpanish National Plan for Scientific and Technical Research and Innovation“la Caixa” FoundationMinisterio de Ciencia e InnovaciónInstituto de Salud Carlos IIICanadian Cancer Society Research InstituteCanadian Institutes of Health ResearchAlex's Lemonade Stand Foundation for Childhood Cancer
KeywordsOligodendrogliomaCarcinogenesisMissense mutationFibroblast growth factor receptor 1PhenotypeMutationInteractomeContext (archaeology)Gene

Abstract

fetched live from OpenAlex

FGFR1 genetic alterations are associated with brain malignancies, including FGFR1 mutations in familial and sporadic cases of low-grade glioneuronal tumors, suggesting intrinsic mechanisms of selective pressure toward FGFR1 multiple events arising in the context of a quiet genome. To decipher the molecular mechanisms triggered by multiple concurrent FGFR1 mutations, we have mapped the proximal interactome of wild-type, single- and double-mutant FGFR1 proteins through a BioID-MS approach. Our data reveal novel oncogenic functionality for the two hotspot mutations N546K and K656E, linked to evasion of lysosomal degradation. Further, we identified a modulatory tumor-suppressive role for the susceptibility variant R661P, which hampers the oncogenic potential of both hotspot N546K and K656E mutations by rescuing receptor degradation and reducing N546K affinity for the downstream effector PLCγ. Introducing the R661P missense variant was sufficient to abolish self-renewal capacity of oligodendroglioma cells and downregulate genes involved in neurodevelopment and neuro-glial cell fate decisions, both aspects overcome in the double mutants. This study sheds light on contextual oncogenic effects associated with FGFR1 alterations and their recurrence in low-mutation burden and therapy naive tumors.

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 categoriesnone
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 score0.147
Threshold uncertainty score0.208

Codex and Gemma teacher scores by category

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

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 head0.012
GPT teacher head0.300
Teacher spread0.288 · 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.

The models applied no category: nothing in the taxonomy fit this work.
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

Citations0
Published2025
Admission routes2
Has abstractyes

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