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Record W4410192422 · doi:10.1158/2643-3230.bcd-24-0240

DNA Methylation Epitypes of Burkitt Lymphoma with Distinct Molecular and Clinical Features

2025· article· en· W4410192422 on OpenAlexafffund
Nicole Thomas, Carlos A. García‐Prieto, Kostiantyn Dreval, Laura K. Hilton, Jeremy S. Abramson, Nancy L. Bartlett, Jeffrey Bethony, Jay Bowen, Anthony C. Bryan, Corey Casper, Maureen A. Dyer, Julie M. Gastier‐Foster, Alina S. Gerrie, Timothy C. Greiner, Nicholas B. Griner, Thomas G. Gross, Nancy L. Harris, John D. Irvin, Elaine S. Jaffe, Fábio E. Leal, Sam M. Mbulaiteye, Charles G. Mullighan, Andrew J. Mungall, Karen Mungall, Constance Namirembe, Ariela Noy, Martin Ogwang, Jackson Orem, German Ott, Hilary Petrello, Steven J. Reynolds, Steven H. Swerdlow, Alexandra Traverse‐Glehen, Wyndham H. Wilson, Marco A. Marra, Louis M. Staudt, David W. Scott, Manel Esteller, Ryan D. Morin

Bibliographic record

VenueBlood Cancer Discovery · 2025
Typearticle
Languageen
FieldMedicine
TopicLymphoma Diagnosis and Treatment
Canadian institutionsUniversity of British ColumbiaSpinal Cord Injury BCCanada's Michael Smith Genome Sciences CentreSimon Fraser University
FundersNHLBI Division of Intramural ResearchNational Cancer InstituteCanadian Institutes of Health ResearchPharmacyclicsEUSA PharmaNational Institute of Allergy and Infectious DiseasesMorphoSysTerry Fox Research InstituteMichael Smith Health Research BCMinisterio de Ciencia e InnovaciónCanada's Michael Smith Genome Sciences CentreFundación CellexSt. Jude Children's Research HospitalGilead SciencesTG TherapeuticsPfizerDivision of Intramural Research, National Institute of Allergy and Infectious DiseasesAmgenIncyteNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsDNA methylationLymphomaDNABurkitt's lymphomaMethylationCancer researchComputational biologyBiologyMedicineGeneticsImmunologyGeneGene expression

Abstract

fetched live from OpenAlex

The genetic subtypes of Burkitt lymphoma have been defined, but the role of epigenetics remains to be comprehensively characterized. We searched genomic DNA from 218 patients across four continents for recurrent DNA methylation patterns and their associations with clinical and molecular features. We identified DNA methylation patterns that were not fully explained by the Epstein-Barr virus status or mutation status, leading to two epitypes described here as HypoBL and HyperBL. Each is characterized by distinct genomic and clinical features including global methylation, mutation burden, aberrant somatic hypermutation, and survival outcomes. Methylation, gene expression, and mutational differences between the epitypes support a model in which each arises from a distinct cell of origin. These results, pending validation in external cohorts, point to a refined risk assessment for patients with Burkitt lymphoma who may experience inferior outcomes. SIGNIFICANCE: Burkitt lymphoma can be divided into two epigenetic subtypes (epitypes), each carrying distinct biological, transcriptomic, genomic, and clinical features. Epitype is more strongly associated with clinical and mutational features than the Epstein-Barr virus status or genetic subtype, highlighting an important additional layer of Burkitt lymphoma pathogenesis.

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)0.001
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.005

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.000
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 head0.009
GPT teacher head0.304
Teacher spread0.294 · 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 routes2
Has abstractyes

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