t(20;21)(q13;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


refractory anemia with excess of blasts and M5- acute myeloid leukemia


tretment of a non Hodgkin lymphoma 2 yrs before diagnosis in 1 case


only 2 male patient cases, aged 38 yrs and 69 yrs

Genes Involved and Proteins

The gene in 20q13 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))
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
357263562022Decoding the transcriptome of denervated muscle at single-nucleus resolution.1
356920752022Evaluating the frequency, prognosis and survival of RUNX1 and ASXL1 mutations in patients with acute myeloid leukaemia in northeastern Iran.1
355051822022RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.1
354394392022Neurovascular unit pathology is observed very early in disease progression in the mutant SOD1G93A mouse model of amyotrophic lateral sclerosis.1
357260672022Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer.1
355514522022Runx1 and Runx2 inhibit fibrotic conversion of cellular niches for hematopoietic stem cells.1
360380432022Long non-coding RNA (lncRNA) H19 in human cancer: From proliferation and metastasis to therapy.0
360051342022RUNX1 and RUNX3 Genes Expression Level in Adult Acute Lymphoblastic Leukemia-A Case Control Study.0
359739832022Phenotypically-defined stages of leukemia arrest predict main driver mutations subgroups, and outcome in acute myeloid leukemia.0
359679662022Correlation Analysis and Prognostic Impacts of Biological Characteristics in Elderly Patients with Acute Myeloid Leukemia.0
359646822022Hypermethylation in the promoter region of the ADRA1A gene is associated with opioid use disorder in Han Chinese.0
359635212022Sequential approach to improve the molecular classification of childhood acute lymphoblastic leukemia.0
359406862022Effects of short-term hypergravity on hematopoiesis and vasculogenesis in embryonic zebrafish.0
359339822022Monitoring minimal residual disease in RUNX1-mutated acute myeloid leukemia.0
359220632022CRISPR Activation Screening Identifies VGLL3-TEAD1-RUNX1/3 as a Transcriptional Complex for PD-L1 Expression.0
359188242022Fusion transcript analysis reveals slower response kinetics than multiparameter flow cytometry in childhood acute myeloid leukaemia.0
358968222022Predictors of clonal evolution and myeloid neoplasia following immunosuppressive therapy in severe aplastic anemia.0
358807272022Sexually Dimorphic Increases in Bone Mass Following Tissue-specific Overexpression of Runx1 in Osteoclast Precursors.0
357925122022Chlorambucil-conjugated PI-polyamides (Chb-M'), a transcription inhibitor of RUNX family, has an anti-tumor activity against SHH-type medulloblastoma with p53 mutation.0
357658762022Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.0
357644822022Revision of RUNX1 variant curation rules.0
355446132022Clinical and molecular characteristics of acute myeloid leukemia with MPL mutation.0
354702772022Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation.0
351888402022Enhancing osteogenic potential of hDPSCs by resveratrol through reducing oxidative stress via the Sirt1/Nrf2 pathway.0
351354322022Acute myeloid leukemia in a child with familial platelet disorder and a cryptic runx1 intragenic deletion.0
359356182022Sex-dependent transcription of cardiac electrophysiology and links to acetylation modifiers based on the GTEx database.0
358845172022Targeting Acute Myeloid Leukemia with Venetoclax; Biomarkers for Sensitivity and Rationale for Venetoclax-Based Combination Therapies.0
358844912022Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies.0
358844352022Immunophenotypic and Molecular Features of Acute Myeloid Leukemia with Plasmacytoid Dendritic Cell Differentiation Are Distinct from Blastic Plasmacytoid Dendritic Cell Neoplasm.0
358677292022PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.0
358424742022Single-cell transcriptome analysis of embryonic and adult endothelial cells allows to rank the hemogenic potential of post-natal endothelium.0
358390752022Defective RAB31-mediated megakaryocytic early endosomal trafficking of VWF, EGFR, and M6PR in RUNX1 deficiency.0
35799207202221q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review.0
357875452022Role of ATP-dependent chromatin remodelers in hematopoietic stem and progenitor cell maintenance.0
354901982022Increased expression of RUNX3 inhibits normal human myeloid development.0
354299052022BAALC gene expression tells a serious patient outcome tale in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute myeloid leukemia in adults.0
353418042022Molecular Basis of Hematological Disease Caused by Inherited or Acquired RUNX1 Mutations.0
350838182022ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations.0
347913282022Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia.0
359985042022TLR2 agonist promotes myeloid-derived suppressor cell polarization via Runx1 in hepatocellular carcinoma.0
359954572022Clinicopathologic and genetic evaluation of B-lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 (iAMP21) in adult patients.0
359860432022Biophysical and pharmacokinetic characterization of a small-molecule inhibitor of RUNX1/ETO tetramerization with anti-leukemic effects.0
359851672022PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.0
359811372022MiR-27a downregulates 14-3-3θ, RUNX1, AF4, and MLL-AF4, crucial drivers of blast transformation in t(4;11) leukemia cells.0
359456232022Single-cell diploid Hi-C reveals the role of spatial aggregations in complex rearrangements and KMT2A fusions in leukemia.0
359265082022The transcription factor FoxP3 can fold into two dimerization states with divergent implications for regulatory T cell function and immune homeostasis.0
359224442022Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.0
359023582022Dysregulated MAPK signaling pathway in acute myeloid leukemia with RUNX1 mutations.0
358829332022Runx3 drives a CD8+ T cell tissue residency program that is absent in CD4+ T cells.0
358518472022A comprehensive analysis of LMO2 pathogenic regulatory profile during T-lineage development and leukemic transformation.0
358029492022A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia.0
357249482022Proposed European Competence Network on Mastocytosis-American Initiative in Mast Cell Diseases (ECNM-AIM) Response Criteria in Advanced Systemic Mastocytosis.0
356122712022Clinical implications and genetic features of clonal cytopenia of undetermined significance compared to lower-risk myelodysplastic syndrome.0
355991452022RUNX1 as a Novel Molecular Target for Breast Cancer.0
355496612022Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.0
354355912022MiR-199a-3p Restrains Foaming and Inflammation by Regulating RUNX1 in Macrophages.0
353790772022Genomic landscape of myelodysplastic/myeloproliferative neoplasm can predict response to hypomethylating agent therapy.0
352901572022Significance of RUNX1 mutation in BCR-ABL1 positive acute myeloid leukemia - a diagnostic dilemma in a young woman with persistent bleeding.0
359685972022[Allogeneic hematopoietic stem cell transplantation for Familial platelet disorder with a propensity for acute myeloid malignancies with Runx1 germline mutations: a case report and literature review].0
358325622022A Novel Prognostic Scoring Model for Myelodysplastic Syndrome Patients With SF3B1 Mutation.0
358123402022Changes of Gene Expression Patterns of Muscle Pathophysiology-Related Transcription Factors During Denervated Muscle Atrophy.0
357717172022Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.0
357410442022Challenges in Cell Fate Acquisition to Scid-Repopulating Activity from Hemogenic Endothelium of hiPSCs Derived from AML Patients Using Forced Transcription Factor Expression.0
357316082022Clonal cytopenias of undetermined significance: potential predictor of myeloid malignancies?0
357200852022Hypoxia- and Inflammation-Related Transcription Factor SP3 May Be Involved in Platelet Activation and Inflammation in Intracranial Hemorrhage.0
357081372022Prediction of complete remission and survival in acute myeloid leukemia using supervised machine learning.0
356808012022[Analysis of Gene Mutation Characteristics and Prognosis of Elderly Patients with Acute Myeloid Leukemia].0
355217872022Skeletal muscle RUNX1 is related to insulin sensitivity through its effect on myogenic potential.0
354274242022A predictive model for bone marrow disease in cytopenia based on noninvasive procedures.0
353802392022The role of clonal hematopoiesis as driver of therapy-related myeloid neoplasms after autologous stem cell transplantation.0
353047382022Therapy-related myeloid neoplasms with normal karyotype show distinct genomic and clinical characteristics compared to their counterparts with abnormal karyotype.0
352588552022JACLS ALL-02 SR protocol reduced-intensity chemotherapy produces excellent outcomes in patients with low-risk childhood acute lymphoblastic leukemia.0
349750102022Differential Implications of CSF3R Mutations in t(8;21) and CEBPA Double Mutated Acute Myeloid Leukemia.0
360112852022Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction.0
359594522022Pan-cancer Landscape of the RUNX Protein Family Reveals their Potential as Carcinogenic Biomarkers and the Mechanisms Underlying their Action.0
359366962022Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.0
359033572022Landscape of Variability in Chemosensory Genes Associated With Dietary Preferences in Indian Population: Analysis of 1029 Indian Genomes.0
359028722022RUNX1T1 function in cell fate.0
358797832022Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis.0
358756602022Meis1 Regulates Nociceptor Development and Behavioral Response to Tactile Stimuli.0
358655232022Savior Siblings Might Rescue Fetal Lethality But Not Adult Lymphoma in Irf2bp2-Null Mice.0
357979802022Retraction Notice to: Role of HCP5-miR-139-RUNX1 Feedback Loop in Regulating Malignant Behavior of Glioma Cells.0
357960102022Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations.0
355366462022MEF2C opposes Notch in lymphoid lineage decision and drives leukemia in the thymus.0
352532992022CRLF2 overexpression defines an immature-like subgroup which is rescued through restoration of the PRC2 function in T-cell precursor acute lymphoblastic leukemia.0
352360512022How I diagnose and treat chronic myelomonocytic leukemia.0
357126322022Immunoglobulin Heavy Chain High-Throughput Sequencing in Pediatric B-Precursor Acute Lymphoblastic Leukemia: Is the Clonality of the Disease at Diagnosis Related to Its Prognosis?0
356940902022Bioinformatics analysis of downstream circRNAs and miRNAs regulated by Runt-related transcription factor 1 in papillary thyroid carcinoma.0
356859212022Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.0
356442772022RUNX1 Inhibition Using Lipid Nanoparticle-Mediated Silencing RNA Delivery as an Effective Treatment for Acute Leukemias.0
356441952022[Clinical features and prognosis of childhood B-lineage acute lymphoblastic leukemia expressing the PRAME gene].0
356260912022Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.0
355728392022Single-Cell Transcriptome Analysis Reveals the Importance of IRF1/FSTL1 in Synovial Fibroblast Subsets for the Development of Rheumatoid Arthritis.0
355330712022Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium.0
355225742022Prognostic value and immune characteristics of RUNX gene family in human cancers: a pan-cancer analysis.0
355068732022Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.0
353497072022SAHA Enhances Differentiation of CD34+CD45+ Hematopoietic Stem and Progenitor Cells from Pluripotent Stem Cells Concomitant with an Increase in Hemogenic Endothelium.0
352719942022RUNX1 and cancer.0
352453722022Endothelial MEKK3-KLF2/4 signaling integrates inflammatory and hemodynamic signals during definitive hematopoiesis.0
351523502022UBC9 inhibits myeloid differentiation in collaboration with AML1-MTG8.0


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
85471011995Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study.Secker-Walker LM et al


Jean-Loup Huret

t(20;21)(q13;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1264/t(20;21)(q13;q22)