t(17;21)(q11.2;q22) RUNX1/?

2000-02-01   Jean-Loup Huret 

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

Clinics and Pathology


acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS); de novo AML and treatment related leukemias (t-AML)

Phenotype stem cell origin

one M2, one treatment related RAEBt/M4, one t-AML


two cases are secondary to treatment with topoisomerase II inhibitors for Hodgkin disease and neuroblastoma


3 cases to date; 1M/2F, aged 2yrs, 39 yrs and 76 yrs



Genes Involved and Proteins

the gene involved in 17q11 is unknown; the breakpoint on chromosome 17 is between the loci for NF1 and RARA
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

Result of the Chromosomal Anomaly


5 prime AML1-3 prime unknown; breakpoint in intron 5 or 6 of AML1the N-term is provided by AML1, as in the t(3;21) and in the t(8;21)associated with AMLs, whereas, in the ALL with t(12;21), the fusion protein comprises the C-term part of AML1.

Highly cited references

Pubmed IDYearTitleCitations
357260672022Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer.0
357249482022Proposed ECNM-AIM Response Criteria in Advanced Systemic Mastocytosis.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
354301912022Clinical impact and proposed application of molecular markers, genetic variants, and cytogenetic analysis in mast cell neoplasms: Status 2022.0
354299052022BAALC gene expression tells a serious patient outcome tale in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute myeloid leukemia in adults.0
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
353418042022Molecular Basis of Hematological Disease Caused by Inherited or Acquired RUNX1 Mutations.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
350838182022ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations.0
350081062022Genome-wide DNA methylation analysis in pediatric acute myeloid leukemia.0
349750102022Differential Implications of CSF3R Mutations in t(8;21) and CEBPA Double Mutated Acute Myeloid Leukemia.0
357316082022Clonal cytopenias of undetermined significance: potential predictor of myeloid malignancies?0
357263562022Decoding the transcriptome of denervated muscle at single-nucleus resolution.0
357045712022Tet2 coordinates with Foxo1 and Runx1 to balance T follicular helper cell and T helper 1 cell differentiation.0
357035272022Next-Generation Sequencing Panel Test in Myeloid Neoplasms and Evaluation with the Clinical Results.0
356920752022Evaluating the frequency, prognosis and survival of RUNX1 and ASXL1 mutations in patients with acute myeloid leukaemia in northeastern Iran.0
356807882022[Clinical Significance of Low Expression of LncRNA CASC15 in Acute Myeloid Leukemia with NPM1 Mutations].0
355496612022Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.0
355446132022Clinical and molecular characteristics of acute myeloid leukemia with MPL mutation.0
355217872022Skeletal muscle RUNX1 is related to insulin sensitivity through its effect on myogenic potential.0
354702772022Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation.0
354455942022Comprehensive Mutation Profile in Acute Myeloid Leukemia Patients with RUNX1-RUNX1T1 or CBFB-MYH11 Fusions0
354394392022Neurovascular unit pathology is observed very early in disease progression in the mutant SOD1G93A mouse model of amyotrophic lateral sclerosis.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
351888402022Enhancing osteogenic potential of hDPSCs by resveratrol through reducing oxidative stress via the Sirt1/Nrf2 pathway.0
350268452022Validation and clinical application of transactivation assays for RUNX1 variant classification.0
349987862022The Application of NextGen Sequencing in the Diagnosis of Myeloid Neoplasms in Myeloma Patients With Cytopenia.0
341972792022Next generation sequencing in therapy-related myeloid neoplasms compared to de novo myeloid neoplasms.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
356826272022Molecular Classification and Overcoming Therapy Resistance for Acute Myeloid Leukemia with Adverse Genetic Factors.0
356626932022CNST is Characteristic of Leukemia Stem Cells and is Associated With Poor Prognosis in AML.0
356260912022Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.0
356153232022The Venetoclax/Azacitidine Combination Targets the Disease Clone in Acute Myeloid Leukemia, Being Effective and Safe in a Patient with COVID-19.0
355728392022Single-Cell Transcriptome Analysis Reveals the Importance of IRF1/FSTL1 in Synovial Fibroblast Subsets for the Development of Rheumatoid Arthritis.0
355514522022Runx1 and Runx2 inhibit fibrotic conversion of cellular niches for hematopoietic stem cells.0
355436212022Predictive and prognostic value of gene mutations in myelodysplastic syndrome treated with hypomethylating agents: a meta-analysis.0
355366462022MEF2C opposes Notch in lymphoid lineage decision and drives leukemia in the thymus.0
355347962022RUNX1 is a promising prognostic biomarker and related to immune infiltrates of cancer-associated fibroblasts in human cancers.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
355051822022RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.0
353549212022Myeloid neoplasms and clonal hematopoiesis from the RUNX1 perspective.0
352719942022RUNX1 and cancer.0
352453722022Endothelial MEKK3-KLF2/4 signaling integrates inflammatory and hemodynamic signals during definitive hematopoiesis.0
352208902022LncRNA RUNX1-IT1 affects the differentiation of Th1 cells by regulating NrCAM transcription in Graves' disease.1
351523502022UBC9 inhibits myeloid differentiation in collaboration with AML1-MTG8.0
356859212022Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.0
356562992022Comprehensive Analysis of a Ferroptosis Pattern and Associated Prognostic Signature in Acute Myeloid Leukemia.0
356556142022Intracranial Aneurysms Induced by RUNX1 Through Regulation of NFKB1 in Patients With Hypertension-An Integrated Analysis Based on Multiple Datasets and Algorithms.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
356122712022Clinical implications and genetic features of clonal cytopenia of undetermined significance compared to lower-risk myelodysplastic syndrome.0
356106282022Mutational landscape of chronic myelomonocytic leukemia in Chinese patients.0
355754042022Molecular mechanisms of ARID5B-mediated genetic susceptibility to acute lymphoblastic leukemia.0
355689542022Generation and clinical potential of functional T lymphocytes from gene-edited pluripotent stem cells.0
355628022022Upregulation of Runt related transcription factor 1 (RUNX1) contributes to tendon-bone healing after anterior cruciate ligament reconstruction using bone mesenchymal stem cells.0
355049582022Immunohistochemical loss of enhancer of Zeste Homolog 2 (EZH2) protein expression correlates with EZH2 alterations and portends a worse outcome in myelodysplastic syndromes.0
355025922022Images from the Haematologica Atlas of Hematologic Cytology: acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1.0
353497072022SAHA Enhances Differentiation of CD34+CD45+ Hematopoietic Stem and Progenitor Cells from Pluripotent Stem Cells Concomitant with an Increase in Hemogenic Endothelium.0
351813942022Circular RNA_0061587 is associated with the tumorigenesis of neurofibromatosis type 1.0
350405172022Effects of Separate and Combined Exposure of Cadmium and Lead on the Endochondral Ossification in Bufo gargarizans.0
355743702022lncRNA PRADX is a Mesenchymal Glioblastoma Biomarker for Cellular Metabolism Targeted Therapy.0
355736972022Co-Expression of Runx1, Hoxa9, Hlf, and Hoxa7 Confers Multi-Lineage Potential on Hematopoietic Progenitors Derived From Pluripotent Stem Cells.0
355665032022Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes.0
355664072022Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia.0
355630852022Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.0
355629652022Multi-Cohort Transcriptomic Subtyping of B-Cell Acute Lymphoblastic Leukemia.0
354901982022Increased expression of RUNX3 inhibits normal human myeloid development.0
354355912022MiR-199a-3p Restrains Foaming and Inflammation by Regulating RUNX1 in Macrophages.0
353959622022[Analysis of Coexisting Gene with NRAS in Acute Myeloid Leukemia].0
353894462022Simon L, Spinella J-F, Yao C-Y, et al. High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML. Blood. 2020;135(21):1882-1886.0
353884092022Jagged 2b induces intercellular signaling within somites to establish hematopoietic stem cell fate in zebrafish.0
351792532022Silencing of IGF2BP1 restrains ox-LDL-induced lipid accumulation and inflammation by reducing RUNX1 expression and promoting autophagy in macrophages.0
351700772022Chronic neutrophilic leukemia complicated with monoclonal gammopathy of undetermined significance: A case report and literature review.2
351318732022Autocrine Canonical Wnt Signaling Primes Noncanonical Signaling through ROR1 in Metastatic Castration-Resistant Prostate Cancer.1
351142762022Oncogenic Runx1-Myc axis in p53-deficient thymic lymphoma.0
350484042022Inhibition of RUNX1 blocks the differentiation of lung fibroblasts to myofibroblasts.0
349828292022A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins.0
349742912022Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature.0
349742892022Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21.0
348937542022Regeneration of immunocompetent B lymphopoiesis from pluripotent stem cells guided by transcription factors.2
356859932022Genomic landscape of T-cell lymphoblastic lymphoma.0
355991452022RUNX1 as a Novel Molecular Target for Breast Cancer.0
355652982022Arginine Methyltransferase PRMT7 Deregulates Expression of RUNX1 Target Genes in T-Cell Acute Lymphoblastic Leukemia.0
354985392022Construction and Validation of Angiogenesis-Related Prognostic Risk Signature to Facilitate Survival Prediction and Biomarker Excavation of Breast Cancer Patients.0
354856652022Association of Somatic Gene Mutations with Risk of Transformation into Acute Myeloid Leukemia in Patients with Myelodysplastic Syndrome: A Systematic Review and Meta-Analysis.0
354795812022High-Throughput Sequencing Reveals CXCR4 and IGF1 Behave Different Roles in Weightlessness Osteoporosis.0
354777492022Invasive lobular carcinoma with extracellular mucin (ILCEM): clinicopathologic and molecular characterization of a rare entity.0
354550502022Lessons Learned from Donor Cell-Derived Myeloid Neoplasms: Report of Three Cases and Review of the Literature.0
354186852022Mapping human haematopoietic stem cells from haemogenic endothelium to birth.1
354124382022Suppression of bone remodeling associated with long-term bisphosphonate treatment is mediated by microRNA-30a-5p.0
353965352022Rearrangement processes and structural variations show evidence of selection in oesophageal adenocarcinomas.0
353964912022Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.0
353790772022Genomic landscape of myelodysplastic/myeloproliferative neoplasm can predict response to hypomethylating agent therapy.0


Pubmed IDLast YearTitleAuthors
97635731998CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.Roulston D et al


Jean-Loup Huret

t(17;21)(q11.2;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2000-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1181/t(17;21)(q11-2;q22)-runx1

External Links