ArticleNature genetics2016
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.
Article in Nature genetics, 2016. 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 177 papers.
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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.
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Who cites it
177 citing papers in PubMed, 268 citations in OpenAlex.
- Trial
- Fusion gene map of acute leukemia revealed by transcriptome sequencing of a consecutive cohort of 1000 cases in a single center.Blood cancer journal · 2021Trial
- Detection of EP300-ZNF384 fusion in patients with acute lymphoblastic leukemia using RNA fusion gene panel sequencing.Annals of hematology · 2020Trial
- Clinical and molecular characteristics ofHaematologica · 2019Trial
- Plasticity under pressure: biology and detection of lineage switch in acute leukemia.Leukemia · 2026Review
- A genomic and epigenomic lens into the biology of acute lymphoblastic leukaemia.Nature reviews. Cancer · 2026Review
- Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.bioRxiv : the preprint server for biology · 2026Article
- The nascent transcriptome delineates the regulatory landscape in human health and disease.bioRxiv : the preprint server for biology · 2026Article
- The emergence and diversification of the DUX gene family across placental mammals.Communications biology · 2026Article
- The landscape of structural variation in pediatric cancer.Cancer cell · 2026Article
- Chemotherapy-driven expression of WNT ligands in bone marrow stromal cells contributes to chemoresistance in acute lymphoblastic leukaemia.British journal of haematology · 2026Article
- hnRNPUL1 has a dead polynucleotide kinase domain that regulates RNA and protein interactions.iScience · 2026Article
- Comparison of gene fusion detection algorithms reveals frequently overlooked driver fusions in hematologic malignancies.NPJ precision oncology · 2026Article
- The clinical characteristics and prognosis analysis of acute B-cell lymphoblastic leukemia with MEF2D fusions.Annals of hematology · 2026Article
- [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 · 2026Article
- ATACdb 2.0: a comprehensive chromatin accessibility database of human and mouse.Nucleic acids research · 2026Article
- Review
- PD-1 Expression Promotes Immune Evasion in B-ALL.Hematology reports · 2025Article
- Article
- Two-way inhibition of PAX5 transcriptional activity by PAX5::CBFA2T3.FEBS open bio · 2025Article
117 more citing papers are in PubMed but not listed here.
Corrections and comments
- Comment on
- Erratum issued
Authors and funding
27 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The oncogenic mechanisms underlying acute lymphoblastic leukemia (ALL) in adolescents and young adults (AYA; 15-39 years old) remain largely elusive. Here we have searched for new oncogenes in AYA-ALL by performing RNA-seq analysis of Philadelphia chromosome (Ph)-negative AYA-ALL specimens (n = 73) with the use of a next-generation sequencer. Interestingly, insertion of D4Z4 repeats containing the DUX4 gene into the IGH locus was frequently identified in B cell AYA-ALL, leading to a high level of expression of DUX4 protein with an aberrant C terminus. A transplantation assay in mice demonstrated that expression of DUX4-IGH in pro-B cells was capable of generating B cell leukemia in vivo. DUX4 fusions were preferentially detected in the AYA generation. Our data thus show that DUX4 can become an oncogenic driver as a result of somatic chromosomal rearrangements and that AYA-ALL may be a clinical entity distinct from ALL at other ages.
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Registered trials
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.