t(1;21)(q12;q22) RUNX1/?
2009-06-01 Yongquan Xue , Jean-Loup Huret Affiliation1.Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, PR China (YX); Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH)
Clinics and Pathology
Disease
Acute monocytic leukemia (AML-M5)
Epidemiology
Only one case reported in the literature till now, a 53-year-old female patient (Dai et al., 2007).
Prognosis
The patient was still in remission 26 months after diagnosis.
Genes Involved and Proteins
Note
The gene partner in chromosome 1q12 is unknown.
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
Dna rna description
Transcription from telomere to centromere.
Protein description
Contains the RUNT binding domain at 5 portion and the transactivation domain at 3 portion. Forms heterodimers; widely expressed; nuclear localization; a transcription factor and critical regulator of hematopoietic-cell development.
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 |
| 38994671 | 2024 | Runx1 promotes neuronal injury in ischemic stroke through mediating miR-203-3p/Pde4d axis. | 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 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17854666 | 2007 | Two novel translocations disrupt the RUNX1 gene in acute myeloid leukemia. | Dai H et al |
Citation
Yongquan Xue ; Jean-Loup Huret
t(1;21)(q12;q22) RUNX1/?
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/haematological/2135/t(1
