t(4;21)(q35;q22) RUNX1/?
2008-09-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Myeloproliferative disease evolving towards a M5-AML; the t(4;21) may be therapy related.
Epidemiology
Only one case to date, a female patient aged 74 years (Jeandidier et al., 2006).
Genes Involved and Proteins
Note
The partner of RUNX1 is unknown.
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
Protein description
Contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37670378 | 2023 | RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome. | 231 |
| 28179279 | 2017 | Role of RUNX1 in hematological malignancies. | 202 |
| 32154891 | 2020 | RUNX1: an emerging therapeutic target for cardiovascular disease. | 190 |
| 30515788 | 2019 | RUNX1-dependent mechanisms in biological control and dysregulation in cancer. | 182 |
| 22201794 | 2012 | RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis. | 181 |
| 30654457 | 2019 | RUNX1-ETO: Attacking the Epigenome for Genomic Instable Leukemia. | 160 |
| 31991535 | 2020 | RUNX1 Dosage in Development and Cancer. | 154 |
| 35140205 | 2022 | Dynamic Runx1 chromatin boundaries affect gene expression in hematopoietic development. | 129 |
| 36636224 | 2022 | The roles of Runx1 in skeletal development and osteoarthritis: A concise review. | 121 |
| 29326930 | 2017 | RUNX1 Mutations in Inherited and Sporadic Leukemia. | 119 |
| 34440349 | 2021 | Transcriptional Regulation of RUNX1: An Informatics Analysis. | 95 |
| 19235904 | 2009 | Cell cycle and developmental control of hematopoiesis by Runx1. | 91 |
| 35884491 | 2022 | Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies. | 90 |
| 37760803 | 2023 | RUNX1-Regulated Signaling Pathways in Ovarian Cancer. | 88 |
| 37936072 | 2023 | Age-related promoter-switch regulates Runx1 expression in adult rat hearts. | 87 |
| 37213235 | 2023 | RUNX1 colludes with NOTCH1 to reprogram chromatin in T cell acute lymphoblastic leukemia. | 87 |
| 31964134 | 2020 | The Clinical, Molecular, and Mechanistic Basis of RUNX1 Mutations Identified in Hematological Malignancies. | 85 |
| 33397648 | 2021 | Different mutant RUNX1 oncoproteins program alternate haematopoietic differentiation trajectories. | 78 |
| 19016745 | 2008 | Role of the RUNX1-EVI1 fusion gene in leukemogenesis. | 75 |
| 28213513 | 2017 | RUNX1 cooperates with FLT3-ITD to induce leukemia. | 75 |
| 38513139 | 2024 | RUNX1 C-terminal mutations impair blood cell differentiation by perturbing specific enhancer-promoter networks. | 73 |
| 36411286 | 2022 | Regulome analysis in B-acute lymphoblastic leukemia exposes Core Binding Factor addiction as a therapeutic vulnerability. | 71 |
| 39309442 | 2024 | RUNX1-MUC13 Interaction Activates Wnt/β-Catenin Signaling Implications for Colorectal Cancer Metastasis. | 70 |
| 31940719 | 2020 | The Role of RUNX1 in NF1-Related Tumors and Blood Disorders. | 66 |
| 37581927 | 2023 | RUNX1 loss renders hematopoietic and leukemic cells dependent on IL-3 and sensitive to JAK inhibition. | 65 |
| 36766786 | 2023 | RUNX1 Is Regulated by Androgen Receptor to Promote Cancer Stem Markers and Chemotherapy Resistance in Triple Negative Breast Cancer. | 64 |
| 36800995 | 2023 | Runx1 controls auditory sensory neuron diversity in mice. | 63 |
| 35018410 | 2022 | Targeting RUNX1 as a novel treatment modality for pulmonary arterial hypertension. | 63 |
| 28990531 | 2018 | RUNX1: A Regulator of NF-kB Signaling in Pulmonary Diseases. | 63 |
| 37082605 | 2022 | C11orf21, a novel RUNX1 target gene, is down-regulated by RUNX1-ETO. | 62 |
| 33135824 | 2021 | TNF-α signaling regulates RUNX1 function in endothelial cells. | 62 |
| 34166225 | 2021 | Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia. | 61 |
| 26901859 | 2016 | Transcriptional Auto-Regulation of RUNX1 P1 Promoter. | 59 |
| 37406166 | 2023 | Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41. | 58 |
| 37536952 | 2023 | RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils. | 57 |
| 38057816 | 2023 | RUNX1 knockdown induced apoptosis and impaired EMT in high-grade serous ovarian cancer cells. | 56 |
| 39102635 | 2024 | CDK9 phosphorylates RUNX1 to promote megakaryocytic fate in megakaryocytic-erythroid progenitors. | 54 |
| 37433039 | 2023 | Ribonucleicacid interference or small molecule inhibition of Runx1 in the border zone prevents cardiac contractile dysfunction following myocardial infarction. | 54 |
| 30046048 | 2018 | Runx1-Stat3-Tgfb3 signaling network regulating the anterior palatal development. | 54 |
| 36307389 | 2022 | Runx1 is a key regulator of articular cartilage homeostasis by orchestrating YAP, TGFβ, and Wnt signaling in articular cartilage formation and osteoarthritis. | 52 |
| 38419056 | 2024 | RUNX1 promotes angiogenesis in colorectal cancer by regulating the crosstalk between tumor cells and tumor associated macrophages. | 51 |
| 23150456 | 2013 | New insights into the role of Runx1 in epithelial stem cell biology and pathology. | 51 |
| 34492681 | 2021 | Redundant mechanisms driven independently by RUNX1 and GATA2 for hematopoietic development. | 50 |
| 36949071 | 2023 | USP10 deubiquitinates RUNX1 and promotes proneural-to-mesenchymal transition in glioblastoma. | 49 |
| 38645858 | 2024 | [Latest Findings on the Role of RUNX1 in Bone Development and Disorders]. | 49 |
| 34434964 | 2021 | RUNX1 Upregulates CENPE to Promote Leukemic Cell Proliferation. | 49 |
| 37697370 | 2023 | Combination of RUNX1 inhibitor and gemcitabine mitigates chemo-resistance in pancreatic ductal adenocarcinoma by modulating BiP/PERK/eIF2α-axis-mediated endoplasmic reticulum stress. | 45 |
| 37416873 | 2023 | Runx1 regulates critical factors that control uterine angiogenesis and trophoblast differentiation during placental development. | 45 |
| 33560381 | 2021 | Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation. | 44 |
| 35765406 | 2022 | A Systematic Review of the Role of Runt-Related Transcription Factor 1 (RUNX1) in the Pathogenesis of Hematological Malignancies in Patients With Inherited Bone Marrow Failure Syndromes. | 43 |
| 33434583 | 2021 | Runx1 regulates zebrafish neutrophil maturation via synergistic interaction with c-Myb. | 43 |
| 26745853 | 2016 | RUNX1 haploinsufficiency results in granulocyte colony-stimulating factor hypersensitivity. | 41 |
| 34876557 | 2021 | Runx1 protects against the pathological progression of osteoarthritis. | 40 |
| 38886545 | 2024 | RUNX1 regulates MCM2/CDC20 to promote COAD progression modified by deubiquitination of USP31. | 39 |
| 38040660 | 2023 | Runx1 is upregulated by STAT3 and promotes proliferation of neonatal rat cardiomyocytes. | 39 |
| 36572559 | 2022 | RUNX1-Survivin Axis Is a Novel Therapeutic Target for Malignant Rhabdoid Tumors. | 35 |
| 36647589 | 2023 | Runt-related transcription factor-1 ameliorates bile acid-induced hepatic inflammation in cholestasis through JAK/STAT3 signaling. | 31 |
| 29254279 | 2017 | Modeling the process of childhood ETV6-RUNX1 B-cell leukemias. | 31 |
| 38286983 | 2024 | RUNX1/NPM1/H3K4me3 complex contributes to extracellular matrix remodeling via enhancing FOSL2 transcriptional activation in glioblastoma. | 30 |
| 36819173 | 2023 | Germline RUNX1 variants in paediatric patients in a French specialised centre. | 30 |
| 26073082 | 2016 | Runx1 contributes to neurofibromatosis type 1 neurofibroma formation. | 30 |
| 28400392 | 2017 | Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis. | 30 |
| 38847758 | 2024 | Runx1 is sufficient but not required for cardiomyocyte cell-cycle activation. | 26 |
| 35933982 | 2022 | Monitoring Minimal Residual Disease in RUNX1-Mutated Acute Myeloid Leukemia. | 15 |
| 37289016 | 2023 | An Old Dog Has a New Trick: Somatic Exonic Deletions in RUNX1 Are Frequent in AML. | 12 |
| 38633925 | 2024 | RUNX1::RUNX1T1 Acute Myeloid Leukemia Cytogenetically Showing t(6;8)(p23;q22). | 8 |
| 35271994 | 2022 | RUNX1 and cancer. | 0 |
| 23350231 | 2012 | [Transcription factor RUNX1]. | 0 |
| 28299651 | 2017 | Runx1 Structure and Function in Blood Cell Development. | 0 |
| 35599145 | 2022 | RUNX1 as a Novel Molecular Target for Breast Cancer. | 0 |
| 38895208 | 2024 | Hematopoietic stem cell division is governed by distinct RUNX1 binding partners. | 0 |
| 35354921 | 2022 | Myeloid neoplasms and clonal hematopoiesis from the RUNX1 perspective. | 0 |
| 38971271 | 2024 | High expression of RUNX1 in colorectal cancer subtype accelerates malignancy by inhibiting HMGCR. | 0 |
| 28299663 | 2017 | RUNX1 and CBFβ Mutations and Activities of Their Wild-Type Alleles in AML. | 0 |
| 33906574 | 2021 | Targeting RUNX1 in acute myeloid leukemia: preclinical innovations and therapeutic implications. | 0 |
| 25263451 | 2015 | Posttranslational modifications of RUNX1 as potential anticancer targets. | 0 |
| 38092960 | 2024 | RUNX1-IT1 acts as a scaffold of STAT1 and NuRD complex to promote ROS-mediated NF-κB activation and ovarian cancer progression. | 0 |
| 28299664 | 2017 | Roles of RUNX in B Cell Immortalisation. | 0 |
| 35341804 | 2022 | Molecular Basis of Hematological Disease Caused by Inherited or Acquired RUNX1 Mutations. | 0 |
| 37530929 | 2023 | Runx1 Deficiency Promotes M2 Macrophage Polarization Through Enhancing STAT6 Phosphorylation. | 0 |
| 23613270 | 2013 | A role for RUNX1 in hematopoiesis and myeloid leukemia. | 0 |
| 19414342 | 2009 | RUNX1 translocations in malignant hemopathies. | 0 |
| 23817177 | 2013 | RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes. | 0 |
| 38493755 | 2024 | Investigations of the prognostic value of RUNX1 mutation in acute myeloid leukemia patients: Data from a real-world study. | 0 |
| 17725493 | 2007 | Regulation of RUNX1 transcriptional function by GATA-1. | 0 |
| 16105753 | 2005 | Runx1/AML1 in normal and abnormal hematopoiesis. | 0 |
| 37500075 | 2023 | The E3 ligase DTX2 inhibits RUNX1 function by binding its C terminus and prevents the growth of RUNX1-dependent leukemia cells. | 0 |
| 38367260 | 2024 | Clinical characteristics and prognosis of acute myeloid leukemia patients with Runt-related transcription factor 1 mutation: A single-center retrospective analysis. | 0 |
| 36964663 | 2023 | RUNX1 together with DAT mutations predicted poor outcome in acute myeloid leukemia. | 0 |
| 33075818 | 2021 | RUNX1 germline variants in RUNX1-mutant AML: how frequent? | 0 |
| 23879542 | 2013 | Contributions of the histone arginine methyltransferase PRMT6 to the epigenetic function of RUNX1. | 0 |
| 39324493 | 2024 | RUNX1::MIR99AHG Chimera in Acute Myeloid Leukemia. | 0 |
| 29055018 | 2017 | RUNX1 Upregulation by Cytotoxic Drugs Promotes Apoptosis. | 0 |
| 20306249 | 2010 | Proleukemic RUNX1 and CBFbeta mutations in the pathogenesis of acute leukemia. | 0 |
| 36788336 | 2023 | Control of focal adhesion kinase activation by RUNX1-regulated miRNAs in high-risk AML. | 0 |
| 37966852 | 2024 | Runx1 alleviates osteoarthritis progression in aging mice. | 0 |
| 36544038 | 2022 | Dysregulated RUNX1 Predicts Poor Prognosis by Mediating Epithelialmesenchymal Transition in Cervical Cancer. | 0 |
| 35902358 | 2022 | Dysregulated MAPK signaling pathway in acute myeloid leukemia with RUNX1 mutations. | 0 |
| 35644277 | 2022 | RUNX1 Inhibition Using Lipid Nanoparticle-Mediated Silencing RNA Delivery as an Effective Treatment for Acute Leukemias. | 0 |
| 18206538 | 2008 | Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16616106 | 2006 | Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique. | Jeandidier E et al |
Citation
Jean-Loup Huret
t(4;21)(q35;q22) RUNX1/?
Atlas Genet Cytogenet Oncol Haematol. 2008-09-01
Online version: http://atlasgeneticsoncology.org/haematological/1525/t(4
