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Record W4410816810 · doi:10.1158/2643-3230.bcd-25-0049

Impact of Genetic Ancestry on Genomics and Survival Outcomes in T-cell Acute Lymphoblastic Leukemia

2025· article· en· W4410816810 on OpenAlexaff
Haley Newman, Shawn H.R. Lee, Petri Pölönen, Rawan Shraim, Yimei Li, Hongyan Liu, Richard Aplenc, Shovik Bandyopadhyay, Changya Chen, Meenakshi Devidas, Caroline Diorio, Kimberly P. Dunsmore, Omar Elghawy, Amira Elhachimi, Sumit Gupta, Junior Hall, Andrew D. Hughes, Stephen P. Hunger, Mignon L. Loh, Zachary Martinez, Michael F. McCoy, Cassidy G. Mullen, Stanley Pounds, Elizabeth A. Raetz, Anna Eames Seffernick, Gongping Shi, Jonathan Sussman, Kai Tan, Lahari Uppuluri, Tiffaney L. Vincent, Ruth Wang’ondu, Lena E. Winestone, Stuart S. Winter, Brent L. Wood, Gang Wu, Jason Xu, Wenjian Yang, Charles G. Mullighan, Jun J. Yang, Kira Bona, David T. Teachey

Bibliographic record

VenueBlood Cancer Discovery · 2025
Typearticle
Languageen
FieldMedicine
TopicAcute Lymphoblastic Leukemia research
Canadian institutionsHospital for Sick Children
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Cancer InstituteNational Heart, Lung, and Blood InstituteDivision of Cancer Prevention, National Cancer Institute
KeywordsLymphoblastic LeukemiaGenomicsBiologyMedicineLeukemiaGeneticsOncologyGeneGenome

Abstract

fetched live from OpenAlex

The influence of genetic ancestry on genomics in T-cell acute lymphoblastic leukemia (T-ALL) has not been fully explored. We examined the impact of genetic ancestry on multiomic alterations, survival outcomes, and risk stratification. Among 1,309 children and young adults with T-ALL treated on the Children's Oncology Group trial AALL0434, the prognostic value of five commonly altered T-ALL genes varied by ancestry-including NOTCH1, which was associated with superior overall survival for patients of European ancestry but was nonprognostic among patients of African ancestry. Integrating genetic ancestry with published T-ALL risk classifiers, we identified that an X01 penalized Cox regression classifier stratified patients regardless of ancestry, whereas a European multigene classifier misclassified patients of certain ancestries. Overall, 80% of patients harbored a genomic alteration in at least one gene with differential prognostic impact in an ancestry-specific manner. These data demonstrate the importance of incorporating genetic ancestry into genomic risk classification. SIGNIFICANCE: There is a lack of studies examining the prognostic significance of genomic features by genetic ancestry in T-ALL, especially in non-European ancestral groups. In this study, we demonstrate how the prognostic value of individual alterations differs by genetic ancestry, warranting future studies to identify germline alleles affecting these associations. See related commentary by de Smith, p. xxx.

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)0.006
metaresearch head score (Gemma)0.026
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.006
Threshold uncertainty score0.034

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.026
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.003
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 head0.015
GPT teacher head0.315
Teacher spread0.300 · 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 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

Citations4
Published2025
Admission routes1
Has abstractyes

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