Evidence map›Paper›PMID 40020210›Full record

ArticleJCO precision oncology2025

Challenging Conventional Diagnostic Methods by Comprehensive Molecular Diagnostics: A Nationwide Prospective Comparison in Children With ALL.

Judith M Boer, Marco J Koudijs, Lennart A Kester, Edwin Sonneveld, Jayne Y Hehir-Kwa, Simone Snijder, Esme Waanders, Arjan Buijs, Valérie de Haas, Inge M van der Sluis and 3 more

Abstract readComparative Study
In one paragraph

Article in JCO precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Emerging genomic biomarkers in diagnosis and classification of T-cell acute lymphoblastic leukemia.Hematology. American Society of Hematology. Education Program · 2025
    Review
  5. Article
  6. Revisiting novel genomic classifiers in the era of immunotherapy for pediatric B-ALL.Hematology. American Society of Hematology. Education Program · 2025
    Review
  7. Article
  8. Article
  9. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Judith M BoerPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0003-4848-7789
Marco J KoudijsPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Lennart A KesterPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0002-8259-9971
Edwin SonneveldPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Jayne Y Hehir-KwaPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0003-0837-304X
Simone SnijderDepartment of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.
Esme WaandersDepartment of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.
Arjan BuijsDepartment of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.
Valérie de HaasPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0003-0339-6816
Inge M van der SluisPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0002-5822-7668
Rob PietersPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0003-2997-3570
Monique L den BoerPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0002-5795-2921
Bastiaan B J TopsPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0002-1699-8210

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTreatment stratification in ALL includes diverse (cyto)genetic aberrations, requiring diverse tests to yield conclusive data. We optimized the diagnostic workflow to detect all relevant aberrations with a limited number of tests in a clinically relevant time frame.

methodsIn 467 consecutive patients with ALL (0-20 years), we compared RNA sequencing (RNAseq), fluorescence in situ hybridization (FISH), reverse transcriptase polymerase chain reaction (RT-PCR), karyotyping, single-nucleotide polymorphism (SNP) array, and multiplex ligation-dependent probe amplification (MLPA) for technical success, concordance of results, and turnaround time.

resultsTo detect stratifying fusions (

conclusionCombining RNAseq and SNP array outperformed current diagnostic tools to detect all stratifying genetic aberrations in ALL. The turnaround time is <15 days matching major treatment decision time points. Moreover, combining RNAseq and SNP array has the advantage of detecting new lesions for studies on prognosis and pathobiology.

Indexed as

Molecular Diagnostic TechniquesPathology, MolecularPrecursor Cell Lymphoblastic Leukemia-LymphomaAdolescentChildChild, PreschoolFemaleHumansInfantInfant, NewbornIn Situ Hybridization, FluorescenceKaryotypingMalePolymorphism, Single NucleotideProspective StudiesYoung Adult

Identifiers

PMID40020210
PMCPMC11913173

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.