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Record W4410431487 · doi:10.1073/pnas.2415779122

Mutant <i>IDH1</i> cooperates with <i>NPM1c</i> or <i>FLT3</i> <sup>ITD</sup> to drive distinct myeloid diseases and molecular outcomes

2025· article· en· W4410431487 on OpenAlexafffund
Julie Leca, Xin Zhang, Cem Meydan, Jonathan Foox, Parameswaran Ramachandran, Liam D. Hendrikse, Wenjing Zhou, Thorsten Berger, Jérôme Fortin, Steven M. Chan, Ming-Feng Chiang, Satoshi Inoue, Wanda Y. Li, Mandy Chu, Gordon S. Duncan, Andrew Wakeham, François Lemonnier, Chantal Tobin, Isabelle Colonna, Christophe Bontoux, Soode Moghadas Jafari, Robert L. Bowman, Brandon Nicolay, Sébastien Ronseaux, Rohini Narayanaswamy, Ross L. Levine, Ari Melnick, Christopher E. Mason, Mark D. Minden, Tak W. Mak

Bibliographic record

VenueProceedings of the National Academy of Sciences · 2025
Typearticle
Languageen
FieldMedicine
TopicAcute Myeloid Leukemia Research
Canadian institutionsPrincess Margaret Cancer CentreMcGill UniversityUniversity Health Network
FundersNational Institute of Allergy and Infectious DiseasesNational Cancer InstituteInnovation and Technology CommissionJapan Society for the Promotion of ScienceMinistry of Education, Culture, Sports, Science and TechnologyVallee FoundationCanadian Institutes of Health ResearchLeukemia and Lymphoma SocietyCancer Research InstituteNational Institutes of HealthPershing Square Sohn Cancer Research AllianceNational Institute of Mental HealthWorldQuant FoundationStarr Cancer Consortium
KeywordsIDH1Isocitrate dehydrogenaseNPM1Myeloid leukemiaMutantCancer researchIDH2MutationMyeloidBiologyGeneGeneticsEnzymeBiochemistry

Abstract

fetched live from OpenAlex

In human acute myeloid leukemia (AML), mutations of isocitrate dehydrogenase-1 ( IDH1 ) often co-occur with NPM1 mutations, and less frequently with FLT3 mutations. To investigate whether the effects of IDH1 mutation differ according to the specific co-occurring mutation, we generated two strains of double knock-in mutant mice. Idh1 R132H combined with Npm1c induced overt AML, whereas Idh1 R132H plus Flt3 ITD resulted in Flt3 ITD -driven myelo- or lymphoproliferation that was minimally affected by Idh1 R132H and rarely generated AML. Gene expression profiling revealed differences between Idh1 R132H ; Npm1c cells and Idh1 R132H ; Flt3 ITD cells and suggested altered heme metabolism and immune responses in the former. The profile of Idh1 R132H ; Npm1c cells corresponded to that of human IDH -mutated AML cells, particularly those resistant to inhibitors of mutant IDH. Compared to treatment with a menin inhibitor, IDH1-targeted therapy of Idh1 R132H ; Npm1c AML-bearing mice was less efficacious in improving cell differentiation and extending survival. The differential cooperation of Idh1 R132H with Npm1c vs. Flt3 ITD may have implications for the devising of subtype-specific treatments for human AML.

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.003

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 integrity0.0000.001
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 head0.019
GPT teacher head0.315
Teacher spread0.296 · 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 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
Published2025
Admission routes2
Has abstractyes

Explore more

Same venueProceedings of the National Academy of SciencesSame topicAcute Myeloid Leukemia ResearchFrench-language works237,207