Evidence map›Paper›PMID 27265895›Full record

ArticleNature communications2016

Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.

Henrik Lilljebjörn, Rasmus Henningsson, Axel Hyrenius-Wittsten, Linda Olsson, Christina Orsmark-Pietras, Sofia von Palffy, Maria Askmyr, Marianne Rissler, Martin Schrappe, Gunnar Cario and 9 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 204 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
204citing papers in PubMed, 2 pooled it
25.1field-weighted citation impact, top 1% 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

204 citing papers in PubMed, 2 syntheses or guidelines pooled it, 309 citations in OpenAlex.

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  17. HemaSphere · 2026
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  20. [Clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Article

144 more citing papers are in PubMed but not listed here.

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

19 authors at 4 institutions in 2 countries.

Henrik LilljebjörnDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Rasmus HenningssonCentre for Mathematical Sciences, Lund University, Lund 22362, Sweden.
Axel Hyrenius-WittstenDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Linda OlssonDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Christina Orsmark-PietrasDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Sofia von PalffyDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Maria AskmyrDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Marianne RisslerDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Martin SchrappeDepartment of Pediatrics, University Hospital Schleswig-Holstein, Kiel 24105, Germany.
Gunnar CarioDepartment of Pediatrics, University Hospital Schleswig-Holstein, Kiel 24105, Germany.
Anders CastorDepartment of Pediatrics, Skåne University Hospital, Lund University, Lund 22185, Sweden.
Cornelis J H PronkDepartment of Pediatrics, Skåne University Hospital, Lund University, Lund 22185, Sweden.
Mikael BehrendtzDepartment of Pediatrics, Linköping University Hospital, Linköping 58185, Sweden.
Felix MitelmanDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Bertil JohanssonDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Kajsa PaulssonDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.ORCID 0000-0001-7950-222X
Anna K AnderssonDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Magnus FontesCentre for Mathematical Sciences, Lund University, Lund 22362, Sweden.
Thoas FioretosDepartment of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund 22184, Sweden.
Lund University · SEStatistics Sweden · SEUniversity Hospital Schleswig-Holstein · DELinköping University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fusion genes are potent driver mutations in cancer. In this study, we delineate the fusion gene landscape in a consecutive series of 195 paediatric B-cell precursor acute lymphoblastic leukaemia (BCP ALL). Using RNA sequencing, we find in-frame fusion genes in 127 (65%) cases, including 27 novel fusions. We describe a subtype characterized by recurrent IGH-DUX4 or ERG-DUX4 fusions, representing 4% of cases, leading to overexpression of DUX4 and frequently co-occurring with intragenic ERG deletions. Furthermore, we identify a subtype characterized by an ETV6-RUNX1-like gene-expression profile and coexisting ETV6 and IKZF1 alterations. Thus, this study provides a detailed overview of fusion genes in paediatric BCP ALL and adds new pathogenetic insights, which may improve risk stratification and provide therapeutic options for this disease.

Indexed as

Alternative SplicingChildChromosome BreakageCluster AnalysisCohort StudiesDNA Mutational AnalysisGene Expression Regulation, NeoplasticGene RearrangementGene Regulatory NetworksHomeodomain ProteinsHumansOncogene Proteins, FusionPrecursor B-Cell Lymphoblastic Leukemia-LymphomaPrincipal Component AnalysisDUX4L1 protein, humanHomeodomain ProteinsOncogene Proteins, Fusion

Identifiers

PMID27265895
PMCPMC4897744
OpenAlexW2472572141

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.