Evidence map›Paper›PMID 32150610›Full record

ArticleBlood advances2020

The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemia.

Lauren M Brown, Andrew Lonsdale, Andrea Zhu, Nadia M Davidson, Breon Schmidt, Anthony Hawkins, Elise Wallach, Michelle Martin, Francoise M Mechinaud, Seong Lin Khaw and 10 more

Erratum issuedOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Blood advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 55 papers.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed
9.2field-weighted citation impact, top 2% of its field
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

55 citing papers in PubMed, 89 citations in OpenAlex.

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  18. B Lineage Acute Lymphoblastic Leukemia with concurrentIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors at 5 institutions in 1 country.

Lauren M BrownMurdoch Children's Research Institute, Parkville, VIC, Australia.
Andrew LonsdaleMurdoch Children's Research Institute, Parkville, VIC, Australia.
Andrea ZhuMurdoch Children's Research Institute, Parkville, VIC, Australia.
Nadia M DavidsonMurdoch Children's Research Institute, Parkville, VIC, Australia.
Breon SchmidtMurdoch Children's Research Institute, Parkville, VIC, Australia.
Anthony HawkinsMurdoch Children's Research Institute, Parkville, VIC, Australia.
Elise WallachMurdoch Children's Research Institute, Parkville, VIC, Australia.
Michelle MartinRoyal Children's Hospital, Parkville, VIC, Australia.
Francoise M MechinaudRoyal Children's Hospital, Parkville, VIC, Australia.
Seong Lin KhawMurdoch Children's Research Institute, Parkville, VIC, Australia.
Ray C BartoloMurdoch Children's Research Institute, Parkville, VIC, Australia.
Louise E A LudlowMurdoch Children's Research Institute, Parkville, VIC, Australia.
Jackie ChallisVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Ian BrooksVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Vida PetrovicVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Nicola C VennChildren's Cancer Institute, University of New South Wales, Sydney, NSW, Australia.
Rosemary SuttonChildren's Cancer Institute, University of New South Wales, Sydney, NSW, Australia.
Ian J MajewskiWalter and Eliza Hall Institute, Parkville, VIC, Australia.
Alicia OshlackMurdoch Children's Research Institute, Parkville, VIC, Australia.
Paul G EkertMurdoch Children's Research Institute, Parkville, VIC, Australia.
Royal Children's Hospital · AUThe University of Melbourne · AUMurdoch Children's Research Institute · AUVictorian Clinical Genetics Services · AUUNSW Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, and implementation of risk-adapted therapy has been instrumental in the dramatic improvements in clinical outcomes. A key to risk-adapted therapies includes the identification of genomic features of individual tumors, including chromosome number (for hyper- and hypodiploidy) and gene fusions, notably ETV6-RUNX1, TCF3-PBX1, and BCR-ABL1 in B-cell ALL (B-ALL). RNA-sequencing (RNA-seq) of large ALL cohorts has expanded the number of recurrent gene fusions recognized as drivers in ALL, and identification of these new entities will contribute to refining ALL risk stratification. We used RNA-seq on 126 ALL patients from our clinical service to test the utility of including RNA-seq in standard-of-care diagnostic pipelines to detect gene rearrangements and IKZF1 deletions. RNA-seq identified 86% of rearrangements detected by standard-of-care diagnostics. KMT2A (MLL) rearrangements, although usually identified, were the most commonly missed by RNA-seq as a result of low expression. RNA-seq identified rearrangements that were not detected by standard-of-care testing in 9 patients. These were found in patients who were not classifiable using standard molecular assessment. We developed an approach to detect the most common IKZF1 deletion from RNA-seq data and validated this using an RQ-PCR assay. We applied an expression classifier to identify Philadelphia chromosome-like B-ALL patients. T-ALL proved a rich source of novel gene fusions, which have clinical implications or provide insights into disease biology. Our experience shows that RNA-seq can be implemented within an individual clinical service to enhance the current molecular diagnostic risk classification of ALL.

Indexed as

Oncogene Proteins, FusionPrecursor Cell Lymphoblastic Leukemia-LymphomaChildGene RearrangementGenomicsHumansSequence Analysis, RNAOncogene Proteins, Fusion

Identifiers

PMID32150610
PMCPMC7065479
OpenAlexW3009547772

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.