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Record W4381433589 · doi:10.1016/j.xcrm.2023.101082

Haploinsufficiency of NFKBIA reshapes the epigenome antipodal to the IDH mutation and imparts disease fate in diffuse gliomas

2023· article· en· W4381433589 on OpenAlexaff
Markus Bredel, Lluı́s Espinosa, Denise Scholtens, Joseph P. McElroy, Rajani Rajbhandari, Wei Meng, Thomas M. Kollmeyer, Tathiane M. Malta, Michael A. Quezada, Griffith R. Harsh, Teresa Lobo‐Jarne, Laura Solé, Aran Merati, Surya Nagaraja, Sindhu Nair, Jaclyn J. White, Nanda K. Thudi, Jessica L. Fleming, Amy Webb, Atsushi Natsume, Seishi Ogawa, Ruthild G. Weber, Joan Bertran, S. Jaharul Haque, Bettina Hentschel, C. Ryan Miller, Frank B. Furnari, Timothy A. Chan, Anca‐Ligia Grosu, Michael Weller, Jill S. Barnholtz‐Sloan, Michelle Monje, Houtan Noushmehr, Robert B. Jenkins, Leland Rogers, David R. Macdonald, Stephanie L. Pugh, Arnab Chakravarti

Bibliographic record

VenueCell Reports Medicine · 2023
Typearticle
Languageen
FieldMedicine
TopicGlioma Diagnosis and Treatment
Canadian institutionsWestern University
FundersDeutsche KrebshilfeNational Cancer InstituteNational Institutes of HealthNational Institute of Biomedical Imaging and BioengineeringFundación Científica Asociación Española Contra el CáncerInstituto de Salud Carlos IIINRG OncologyNational Institute of Neurological Disorders and StrokeRobert J. Kleberg, Jr. and Helen C. Kleberg Foundation
KeywordsHaploinsufficiencyEpigenomeBiologyCancer researchDNA methylationChromatinMutationGeneticsPhenotypeGeneGene expression

Abstract

fetched live from OpenAlex

Genetic alterations help predict the clinical behavior of diffuse gliomas, but some variability remains uncorrelated. Here, we demonstrate that haploinsufficient deletions of chromatin-bound tumor suppressor NFKB inhibitor alpha (NFKBIA) display distinct patterns of occurrence in relation to other genetic markers and are disproportionately present at recurrence. NFKBIA haploinsufficiency is associated with unfavorable patient outcomes, independent of genetic and clinicopathologic predictors. NFKBIA deletions reshape the DNA and histone methylome antipodal to the IDH mutation and induce a transcriptome landscape partly reminiscent of H3K27M mutant pediatric gliomas. In IDH mutant gliomas, NFKBIA deletions are common in tumors with a clinical course similar to that of IDH wild-type tumors. An externally validated nomogram model for estimating individual patient survival in IDH mutant gliomas confirms that NFKBIA deletions predict comparatively brief survival. Thus, NFKBIA haploinsufficiency aligns with distinct epigenome changes, portends a poor prognosis, and should be incorporated into models predicting the disease fate of diffuse gliomas.

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)0.001
metaresearch head score (Gemma)0.001
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 score0.141
Threshold uncertainty score0.332

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
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 science0.0000.000
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 head0.019
GPT teacher head0.279
Teacher spread0.260 · 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

Citations6
Published2023
Admission routes1
Has abstractyes

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