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Record W2321002580 · doi:10.1038/ncomms11185

Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma

2016· article· en· W2321002580 on OpenAlexafffund
Hamid Nikbakht, Eshini Panditharatna, Leonie G. Mikael, Rui Li, Tenzin Gayden, Matthew Osmond, Cheng‐Ying Ho, Madhuri Kambhampati, Eugene Hwang, Damien Faury, Alan Siu, Simon Papillon‐Cavanagh, Denise Béchet, Keith L. Ligon, Benjamin Ellezam, Wendy J. Ingram, Caedyn L. Stinson, Andrew S. Moore, Katherine E. Warren, Jason Karamchandani, Roger J. Packer, Nada Jabado, Jacek Majewski, Javad Nazarian

Bibliographic record

VenueNature Communications · 2016
Typearticle
Languageen
FieldMedicine
TopicGlioma Diagnosis and Treatment
Canadian institutionsMontreal Neurological Institute and HospitalCentre Hospitalier Universitaire Sainte-JustineUniversité de MontréalMcGill University Health CentreMcGill UniversityMcGill University and Génome Québec Innovation Centre
FundersCanadian Institutes of Health ResearchGenome CanadaMcGill UniversityNational Cancer InstituteNational Institutes of HealthFondation de l'Hôpital de Montréal pour enfantsChildren's Hospital FoundationGeorge Washington UniversityNational Center for Advancing Translational SciencesMusella Foundation For Brain Tumor Research and Information
KeywordsBiologyObligateGliomaCancer researchCarcinogenesisNeuroscienceHistonePathologyBioinformaticsMedicineGeneGenetics

Abstract

fetched live from OpenAlex

Diffuse Intrinsic Pontine Gliomas (DIPGs) are deadly paediatric brain tumours where needle biopsies help guide diagnosis and targeted therapies. To address spatial heterogeneity, here we analyse 134 specimens from various neuroanatomical structures of whole autopsy brains from nine DIPG patients. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1). Later oncogenic alterations arise in sub-clones and often affect the PI3K pathway. Our findings are consistent with early tumour spread outside the brainstem including the cerebrum. The spatial and temporal homogeneity of main driver mutations in DIPG implies they will be captured by limited biopsies and emphasizes the need to develop therapies specifically targeting obligate oncohistone partnerships.

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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.023
Threshold uncertainty score0.240

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 head0.016
GPT teacher head0.293
Teacher spread0.277 · 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 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

Citations262
Published2016
Admission routes2
Has abstractyes

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