ArticleCancer cell2019
Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.
Erratum issuedOpen access · greenAbstract read
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Article in Cancer cell, 2019. 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 72 papers.
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72citing papers in PubMed
12.9field-weighted citation impact, top 1% of its field
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Who cites it
72 citing papers in PubMed, 144 citations in OpenAlex.
- Trial
- DLK1 is a GATA1s-driven dependency and therapeutic target in Down syndrome-associated myeloid leukemia.Blood advances · 2026Article
- Single cell transcriptional evolution of myeloid leukemia of Down syndrome.Nature communications · 2026Article
- Molecular risk markers define risk of relapse in myeloid leukemia of Down syndrome beyond measurable residual disease.Blood advances · 2026Article
- Detection of clonal selection by multicolor flow cytometry in TAM with multiple GATA1 mutations.International journal of hematology · 2026Article
- Cohesin mutations and chromatin changes in cancer.International journal of cancer · 2026Review
- A cancer-predisposing syndrome is always there: a sequential occurrence of acute lymphoblastic leukemia after acute myeloid leukemia in a child with down syndrome.Frontiers in oncology · 2026Article
- A myeloid trisomy 21-associated gene variant is protective from Alzheimer's disease.Nature neuroscience · 2026Article
- Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome.Blood advances · 2025Article
- Single-cell transcriptomics reveal individual and cooperative effects of trisomy 21 and GATA1s on hematopoiesis.Stem cell reports · 2025Article
- Transient abnormal myelopoiesis in a premature infant with Down syndrome: A case report.Medicine · 2025Article
- Review
- Untangling the loops ofLeukemia & lymphoma · 2025Review
- Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.Annals of hematology · 2024Article
- Cohesin mutations in acute myeloid leukemia.Leukemia · 2024Review
- Endogenous small molecule effectors in GATA transcription factor mechanisms governing biological and pathological processes.Experimental hematology · 2024Review
- Insights into the Clinical, Biological and Therapeutic Impact of Copy Number Alteration in Cancer.International journal of molecular sciences · 2024Review
- Malignant progression of preleukemic disorders.Blood · 2024Review
- A Trisomy 21-linked Hematopoietic Gene Variant in Microglia Confers Resilience in Human iPSC Models of Alzheimer's Disease.bioRxiv : the preprint server for biology · 2024Article
- Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
34 authors at 18 institutions in 6 countries.
Maurice LabuhnPediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany.
Kelly PerkinsMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Sören MatzkPediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Leila VargheseLudwig Institute for Cancer Research Brussels Branch, 1200 Brussels, Belgium.
Catherine GarnettMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Elli PapaemmanuilDepartments of Epidemiology and Biostatistics and Cancer Biology, MSKCC, New York, NY 10065, USA.
Marlen MetznerMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Alison KennedyMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Vyacheslav AmstislavskiyMax Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Thomas RischMax Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Raj BhayadiaPediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany.
David SamulowskiPediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany.
David Cruz HernandezMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Bilyana StoilovaMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Valentina IotchkovaMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Udo OppermannBotnar Research Centre, NDORMS, Oxford NIHR BRC and Structural Genomics Consortium, UK University of Oxford, Oxford OX3 7LD, UK.
Carina ScheerPediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany.
Kenichi YoshidaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto 606-8315 Japan.
Adrian SchwarzerPediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany.
Jeffrey W TaubDivision of Pediatric Hematology/Oncology, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI 48201, USA.
John D CrispinoDivision of Hematology/Oncology, Northwestern University, Chicago, IL 60611, USA.
Mitchell J WeissHematology Department, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Yasuhide HayashiInstitute of Physiology and Medicine, Jobu University, Takasaki-shi, Gunma 370-0033, Japan.
Takashi TagaDepartment of Pediatrics, Shiga University of Medical Science, Shiga 520-2192, Japan.
Etsuro ItoDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto 606-8315 Japan; Center for Hematology and Regenerative Medicine, Karolinska Institute, 171 77 Stockholm, Sweden.
Dirk ReinhardtPediatric Hematology and Oncology, Pediatrics III, University Hospital Essen, 45122 Essen, Germany.
Marie-Laure YaspoMax Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Peter J CampbellCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Irene RobertsMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK; Department of Paediatrics, University of Oxford, Oxford OX3 9DS, UK.
Stefan N ConstantinescuLudwig Institute for Cancer Research Brussels Branch, 1200 Brussels, Belgium.
Paresh VyasMRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK; Department of Haematology, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK. Electronic address: paresh.vyas@imm.ox.ac.uk.
Dirk HecklPediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany; Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany. Electronic address: dirk.heckl@uk-halle.de.
Jan-Henning KlusmannPediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, 06120 Halle, Germany. Electronic address: jan-henning.klusmann@uk-halle.de.
Martin Luther University Halle-Wittenberg · DEOxford BioMedica (United Kingdom) · GBUniversity of Oxford · GBMax Planck Institute for Molecular Genetics · DEMedizinische Hochschule Hannover · DEKyoto University · JPLudwig Cancer Research · BEEssen University Hospital · DEGenomics (United Kingdom) · GBHirosaki University · JPJobu University · JPMemorial Sloan Kettering Cancer Center · USNorthwestern University · USOxford University Hospitals NHS Trust · GBShiga University of Medical Science · JPSt. Jude Children's Research Hospital · USWayne State University · USWellcome Sanger Institute · GB
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MTumor Biology and Microenvironment (Program 1)P30CA022453 · NCI · WAYNE STATE UNIVERSITY · PI Julie Lynn Boerner · 1985 to 2026
$68.4MDepartment of HealthMedical Research Council G1000729Medical Research Council MC_U137961146Medical Research Council MC_UU_00016/11Medical Research Council MC_UU_12009/11NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA022453Wellcome Trust
Abstract
Myeloid leukemia in Down syndrome (ML-DS) clonally evolves from transient abnormal myelopoiesis (TAM), a preleukemic condition in DS newborns. To define mechanisms of leukemic transformation, we combined exome and targeted resequencing of 111 TAM and 141 ML-DS samples with functional analyses. TAM requires trisomy 21 and truncating mutations in GATA1; additional TAM variants are usually not pathogenic. By contrast, in ML-DS, clonal and subclonal variants are functionally required. We identified a recurrent and oncogenic hotspot gain-of-function mutation in myeloid cytokine receptor CSF2RB. By a multiplex CRISPR/Cas9 screen in an in vivo murine TAM model, we tested loss-of-function of 22 recurrently mutated ML-DS genes. Loss of 18 different genes produced leukemias that phenotypically, genetically, and transcriptionally mirrored ML-DS.
Indexed as
Chromosomes, Human, Pair 21MutationAnimalsBiomarkers, TumorCell Transformation, NeoplasticCytokine Receptor Common beta SubunitDisease Models, AnimalDisease ProgressionDown SyndromeGATA1 Transcription FactorGene Expression Regulation, LeukemicGenetic Predisposition to DiseaseHEK293 CellsHumansLeukemia, MyeloidLeukemoid ReactionBiomarkers, TumorCSF2RB protein, humanCytokine Receptor Common beta SubunitGATA1 protein, humanGata1 protein, mouseGATA1 Transcription FactorAcute myeloid leukemiacancer transformationCRISPR screenDown syndromeGATA1preleukemia
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