t(2;21)(p11;q22) RUNX1/?

2003-02-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

M1 acute non lymhocytic leukemia (AML)

Etiology

no known prior exposure

Epidemiology

only one case to date, a 78 yr old male patient

Prognosis

death occurred during induction therapy

Genes Involved and Proteins

Note
The gene in 2p11 is yet unknown, and, because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
Dna rna description
transcription is from telomere to centromere
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 IDYearTitleCitations
376703782023RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.231
281792792017Role of RUNX1 in hematological malignancies.202
321548912020RUNX1: an emerging therapeutic target for cardiovascular disease.190
305157882019RUNX1-dependent mechanisms in biological control and dysregulation in cancer.182
222017942012RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis.181
306544572019RUNX1-ETO: Attacking the Epigenome for Genomic Instable Leukemia.160
319915352020RUNX1 Dosage in Development and Cancer.154
351402052022Dynamic Runx1 chromatin boundaries affect gene expression in hematopoietic development.129
366362242022The roles of Runx1 in skeletal development and osteoarthritis: A concise review.121
293269302017RUNX1 Mutations in Inherited and Sporadic Leukemia.119
344403492021Transcriptional Regulation of RUNX1: An Informatics Analysis.95
192359042009Cell cycle and developmental control of hematopoiesis by Runx1.91
358844912022Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies.90
377608032023RUNX1-Regulated Signaling Pathways in Ovarian Cancer.88
379360722023Age-related promoter-switch regulates Runx1 expression in adult rat hearts.87
372132352023RUNX1 colludes with NOTCH1 to reprogram chromatin in T cell acute lymphoblastic leukemia.87
319641342020The Clinical, Molecular, and Mechanistic Basis of RUNX1 Mutations Identified in Hematological Malignancies.85
333976482021Different mutant RUNX1 oncoproteins program alternate haematopoietic differentiation trajectories.78
190167452008Role of the RUNX1-EVI1 fusion gene in leukemogenesis.75
282135132017RUNX1 cooperates with FLT3-ITD to induce leukemia.75
341111092021Runx1 shapes the chromatin landscape via a cascade of direct and indirect targets.74
385131392024RUNX1 C-terminal mutations impair blood cell differentiation by perturbing specific enhancer-promoter networks.73
364112862022Regulome analysis in B-acute lymphoblastic leukemia exposes Core Binding Factor addiction as a therapeutic vulnerability.71
393094422024RUNX1-MUC13 Interaction Activates Wnt/β-Catenin Signaling Implications for Colorectal Cancer Metastasis.70
319407192020The Role of RUNX1 in NF1-Related Tumors and Blood Disorders.66
375819272023RUNX1 loss renders hematopoietic and leukemic cells dependent on IL-3 and sensitive to JAK inhibition.65
367667862023RUNX1 Is Regulated by Androgen Receptor to Promote Cancer Stem Markers and Chemotherapy Resistance in Triple Negative Breast Cancer.64
368009952023Runx1 controls auditory sensory neuron diversity in mice.63
350184102022Targeting RUNX1 as a novel treatment modality for pulmonary arterial hypertension.63
289905312018RUNX1: A Regulator of NF-kB Signaling in Pulmonary Diseases.63
370826052022C11orf21, a novel RUNX1 target gene, is down-regulated by RUNX1-ETO.62
331358242021TNF-α signaling regulates RUNX1 function in endothelial cells.62
341662252021Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.61
269018592016Transcriptional Auto-Regulation of RUNX1 P1 Promoter.59
374061662023Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.58
375369522023RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils.57
380578162023RUNX1 knockdown induced apoptosis and impaired EMT in high-grade serous ovarian cancer cells.56
391026352024CDK9 phosphorylates RUNX1 to promote megakaryocytic fate in megakaryocytic-erythroid progenitors.54
374330392023Ribonucleicacid interference or small molecule inhibition of Runx1 in the border zone prevents cardiac contractile dysfunction following myocardial infarction.54
300460482018Runx1-Stat3-Tgfb3 signaling network regulating the anterior palatal development.54
363073892022Runx1 is a key regulator of articular cartilage homeostasis by orchestrating YAP, TGFβ, and Wnt signaling in articular cartilage formation and osteoarthritis.52
384190562024RUNX1 promotes angiogenesis in colorectal cancer by regulating the crosstalk between tumor cells and tumor associated macrophages.51
231504562013New insights into the role of Runx1 in epithelial stem cell biology and pathology.51
344926812021Redundant mechanisms driven independently by RUNX1 and GATA2 for hematopoietic development.50
369490712023USP10 deubiquitinates RUNX1 and promotes proneural-to-mesenchymal transition in glioblastoma.49
386458582024[Latest Findings on the Role of RUNX1 in Bone Development and Disorders].49
344349642021RUNX1 Upregulates CENPE to Promote Leukemic Cell Proliferation.49
376973702023Combination of RUNX1 inhibitor and gemcitabine mitigates chemo-resistance in pancreatic ductal adenocarcinoma by modulating BiP/PERK/eIF2α-axis-mediated endoplasmic reticulum stress.45
374168732023Runx1 regulates critical factors that control uterine angiogenesis and trophoblast differentiation during placental development.45
335603812021Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation.44
357654062022A 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
334345832021Runx1 regulates zebrafish neutrophil maturation via synergistic interaction with c-Myb.43
267458532016RUNX1 haploinsufficiency results in granulocyte colony-stimulating factor hypersensitivity.41
348765572021Runx1 protects against the pathological progression of osteoarthritis.40
388865452024RUNX1 regulates MCM2/CDC20 to promote COAD progression modified by deubiquitination of USP31.39
380406602023Runx1 is upregulated by STAT3 and promotes proliferation of neonatal rat cardiomyocytes.39
365725592022RUNX1-Survivin Axis Is a Novel Therapeutic Target for Malignant Rhabdoid Tumors.35
366475892023Runt-related transcription factor-1 ameliorates bile acid-induced hepatic inflammation in cholestasis through JAK/STAT3 signaling.31
292542792017Modeling the process of childhood ETV6-RUNX1 B-cell leukemias.31
382869832024RUNX1/NPM1/H3K4me3 complex contributes to extracellular matrix remodeling via enhancing FOSL2 transcriptional activation in glioblastoma.30
368191732023Germline RUNX1 variants in paediatric patients in a French specialised centre.30
260730822016Runx1 contributes to neurofibromatosis type 1 neurofibroma formation.30
284003922017Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis.30
388477582024Runx1 is sufficient but not required for cardiomyocyte cell-cycle activation.26
359339822022Monitoring Minimal Residual Disease in RUNX1-Mutated Acute Myeloid Leukemia.15
372890162023An Old Dog Has a New Trick: Somatic Exonic Deletions in RUNX1 Are Frequent in AML.12
386339252024RUNX1::RUNX1T1 Acute Myeloid Leukemia Cytogenetically Showing t(6;8)(p23;q22).8
352719942022RUNX1 and cancer.0
233502312012[Transcription factor RUNX1].0
282996512017Runx1 Structure and Function in Blood Cell Development.0
355991452022RUNX1 as a Novel Molecular Target for Breast Cancer.0
388952082024Hematopoietic stem cell division is governed by distinct RUNX1 binding partners.0
353549212022Myeloid neoplasms and clonal hematopoiesis from the RUNX1 perspective.0
389712712024High expression of RUNX1 in colorectal cancer subtype accelerates malignancy by inhibiting HMGCR.0
282996632017RUNX1 and CBFβ Mutations and Activities of Their Wild-Type Alleles in AML.0
339065742021Targeting RUNX1 in acute myeloid leukemia: preclinical innovations and therapeutic implications.0
252634512015Posttranslational modifications of RUNX1 as potential anticancer targets.0
380929602024RUNX1-IT1 acts as a scaffold of STAT1 and NuRD complex to promote ROS-mediated NF-κB activation and ovarian cancer progression.0
282996642017Roles of RUNX in B Cell Immortalisation.0
353418042022Molecular Basis of Hematological Disease Caused by Inherited or Acquired RUNX1 Mutations.0
375309292023Runx1 Deficiency Promotes M2 Macrophage Polarization Through Enhancing STAT6 Phosphorylation.0
236132702013A role for RUNX1 in hematopoiesis and myeloid leukemia.0
194143422009RUNX1 translocations in malignant hemopathies.0
238171772013RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.0
384937552024Investigations of the prognostic value of RUNX1 mutation in acute myeloid leukemia patients: Data from a real-world study.0
177254932007Regulation of RUNX1 transcriptional function by GATA-1.0
161057532005Runx1/AML1 in normal and abnormal hematopoiesis.0
375000752023The E3 ligase DTX2 inhibits RUNX1 function by binding its C terminus and prevents the growth of RUNX1-dependent leukemia cells.0
383672602024Clinical characteristics and prognosis of acute myeloid leukemia patients with Runt-related transcription factor 1 mutation: A single-center retrospective analysis.0
369646632023RUNX1 together with DAT mutations predicted poor outcome in acute myeloid leukemia.0
238795422013Contributions of the histone arginine methyltransferase PRMT6 to the epigenetic function of RUNX1.0
393244932024RUNX1::MIR99AHG Chimera in Acute Myeloid Leukemia.0
290550182017RUNX1 Upregulation by Cytotoxic Drugs Promotes Apoptosis.0
203062492010Proleukemic RUNX1 and CBFbeta mutations in the pathogenesis of acute leukemia.0
367883362023Control of focal adhesion kinase activation by RUNX1-regulated miRNAs in high-risk AML.0
379668522024Runx1 alleviates osteoarthritis progression in aging mice.0
365440382022Dysregulated RUNX1 Predicts Poor Prognosis by Mediating Epithelialmesenchymal Transition in Cervical Cancer.0
359023582022Dysregulated MAPK signaling pathway in acute myeloid leukemia with RUNX1 mutations.0
356442772022RUNX1 Inhibition Using Lipid Nanoparticle-Mediated Silencing RNA Delivery as an Effective Treatment for Acute Leukemias.0
182065382008Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
115502882001Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.Mathew S et al
111068272000Identification of two new translocations that disrupt the AML1 gene.Richkind K et al

Citation

Jean-Loup Huret

t(2;21)(p11;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1261/t(2;21)(p11;q22)