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Record W4415097697 · doi:10.1016/j.jmoldx.2025.09.004

Validation of a Modular Gene Expression Assay for Risk Stratification and Subtyping Lymphomas

2025· article· en· W4415097697 on OpenAlexafffund
Peter Sabatini, Joshua Bridgers, Shujun Huang, Tong Zhang, Clare Sheen, Tracy Stockley, Robert Kridel, Ian Bosdet, Marco A. Marra, Christian Steidl, David W. Scott, Aly Karsan

Bibliographic record

VenueJournal of Molecular Diagnostics · 2025
Typearticle
Languageen
FieldMedicine
TopicLymphoma Diagnosis and Treatment
Canadian institutionsSpinal Cord Injury BCPrincess Margaret Cancer CentreBC Cancer AgencyUniversity of British ColumbiaUniversity Health NetworkCanada's Michael Smith Genome Sciences Centre
FundersBC Cancer AgencyTerry Fox Research InstituteGenome British ColumbiaProvincial Health Services AuthorityOntario Research FoundationPrincess Margaret Cancer FoundationCanadian Institutes of Health ResearchGenome Canada
KeywordsSubtypingLymphomaConcordanceHousekeeping geneFollicular lymphomaGene expressionGene expression profilingFluorescence in situ hybridization

Abstract

fetched live from OpenAlex

Gene expression signatures are important for classifying lymphoid malignancies, although routine diagnostic workflows predominantly use immunohistochemical staining and fluorescence in situ hybridization. These traditional methods are labor intensive and may misclassify the underlying oncogenic signatures, leading to inaccurate prognostication. To address this issue, an RNA expression panel was developed, the Lymphoma Expression Analysis (LExA120) 120 gene expression panel, using the NanoString platform for rapid, modular analysis of various lymphoma subtypes. The LExA120 panel targets 95 genes and 25 housekeeping genes to evaluate aggressive B-cell lymphomas, including: diffuse large B-cell lymphoma cell-of-origin, dark zone, and primary mediastinal large B-cell lymphoma signatures; Epstein-Barr virus (EBV) status; and a classical Hodgkin lymphoma posttransplant risk. Fifty-four formalin-fixed, paraffin-embedded tissue samples were tested with known diagnoses and 51 samples with known EBV status. The panel showed high concordance with previously validated methods according to Pearson correlation coefficients of the signature scores. The assay also displayed high reproducibility in repeated tests and across different clinical laboratories. This study confirmed the panel's ability to stratify EBV-positive and EBV-negative lymphomas with high diagnostic certainty. Although EBER in situ hybridization confirmation was needed in approximately 12% of cases, synergizing with traditional techniques may facilitate more rapid and cost-effective diagnoses. The LExA120 panel offers a multiplexed approach to lymphoma classification, enhancing the efficiency and accuracy for subtyping lymphomas.

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)0.002
metaresearch head score (Gemma)0.003
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 score0.002
Threshold uncertainty score0.012

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.001

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 head0.010
GPT teacher head0.272
Teacher spread0.262 · 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

Citations0
Published2025
Admission routes2
Has abstractno

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