t(12;21)(p13;q22) ETV6/RUNX1
1997-08-01 Jean-Loup Huret , Alain Bernheim , Jean-Loup Huret Affiliation1.Laboratoire de Cytogénétique, UMR 1599 CNRS, Institut Gustave Roussy, 94805 Villejuif, France
2.Laboratoire de Cytogénétique, UMR 1599 CNRS, Institut Gustave Roussy, 94805 Villejuif, France
Clinics and Pathology
Disease
B cell ALL
Phenotype stem cell origin
L1 and L2, CD10+
Epidemiology
15 to 35% of paediatric B-lineage ALL: so far the mostfrequent translocation in this group; rare or absent in adults and ininfants; age: children; no case >20 yrs so far; male and female equallyrepresented
Clinics
standard ALL
Prognosis
CR in all cases; prognosis seems good
Cytogenetics
Cytogenetics morphological
t(12;21) often remained undetected
Cytogenetics molecular
easily detected by chromosomes 12 and 21 painting orspecific probes
Additional anomalies
frequent del(12)(p12) on the other chromosome; in rarecases duplication of der(21)t(12;21); looks like a +21
Variants
t(6;12;21), t(3;12;21)
Genes Involved and Proteins
Gene name
ETV6 (ets variant 6)
Location
12p13.2
Protein description
contains a HLH domain and a ETS-DNA binding domain;contains a Runt domain and, in the C-term, a
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
transactivation domain; forms heterodimers; widely expressed; nuclear
Protein description
localisation; transcription factor (activator) for various
Protein description
hematopoietic-specific genes
Result of the Chromosomal Anomaly
ETV6 (TEL) and RUNX1 (AML1) breakpoints in the t(12;21) / 5 ETV6 - 3 RUNX1 fusion gene - Courtesy Hossein Mossafa.
Description
TEL-AML1 chimaeric gene; 5 centromere to 3 telomere orientation
Transcript
the fusion transcript on chromosome 21 TEL -AML1 is the crucialone; the AML1-TEL transcript is absent in some cases; the other TEL alleleis often deleted.
Detection protocole
RT-PCR of the fusion transcript
Description
Helix loop helix of TEL fused to the nearly entire AML1
Description
protein, comprising the Runt domain and the transactivation domain
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28819864 | 2018 | Molecular processes involved in B cell acute lymphoblastic leukaemia. | 274 |
| 32117272 | 2020 | Neoantigens in Hematologic Malignancies. | 183 |
| 30542624 | 2018 | Translocations involving ETS family proteins in human cancer. | 169 |
| 34010407 | 2021 | Toward prevention of childhood ALL by early-life immune training. | 166 |
| 35004601 | 2021 | Risk Factors for Childhood Leukemia: Radiation and Beyond. | 140 |
| 22823977 | 2012 | Myeloid malignancies: mutations, models and management. | 137 |
| 38999955 | 2024 | The Role of the JAK-STAT Pathway in Childhood B-Cell Acute Lymphoblastic Leukemia. | 130 |
| 35294722 | 2022 | In Utero Development and Immunosurveillance of B Cell Acute Lymphoblastic Leukemia. | 124 |
| 28418909 | 2017 | Pathogenesis of ETV6/RUNX1-positive childhood acute lymphoblastic leukemia and mechanisms underlying its relapse. | 117 |
| 38490765 | 2024 | Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders. | 113 |
| 36766699 | 2023 | The Landscape of Secondary Genetic Rearrangements in Pediatric Patients with B-Cell Acute Lymphoblastic Leukemia with t(12;21). | 110 |
| 40634509 | 2025 | Genomic determinants of therapy response in ETV6::RUNX1 leukemia. | 109 |
| 33038982 | 2020 | Molecular markers in ALL: Clinical implications. | 107 |
| 26085716 | 2015 | Prognostification of ALL by Cytogenetics. | 99 |
| 31723781 | 2018 | Advances in B-cell Precursor Acute Lymphoblastic Leukemia Genomics. | 98 |
| 41009342 | 2025 | Age-Driven Genetic and Epigenetic Heterogeneity in B-ALL. | 95 |
| 38777370 | 2024 | A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing. | 88 |
| 30842058 | 2019 | Comparative features and outcomes between paediatric T-cell and B-cell acute lymphoblastic leukaemia. | 83 |
| 40725249 | 2025 | Identification of Molecular Subtypes of B-Cell Acute Lymphoblastic Leukemia in Mexican Children by Whole-Transcriptome Analysis. | 83 |
| 38136366 | 2023 | Generation of a Zebrafish Knock-In Model Recapitulating Childhood ETV6::RUNX1-Positive B-Cell Precursor Acute Lymphoblastic Leukemia. | 83 |
| 36350827 | 2023 | ETV6 Deficiency Unlocks ERG-Dependent Microsatellite Enhancers to Drive Aberrant Gene Activation in B-Lymphoblastic Leukemia. | 82 |
| 31902036 | 2020 | Insights into the prenatal origin of childhood acute lymphoblastic leukemia. | 82 |
| 31767839 | 2019 | Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk. | 81 |
| 33074527 | 2020 | Precision medicine in acute lymphoblastic leukemia. | 78 |
| 37019990 | 2023 | The KMT2A recombinome of acute leukemias in 2023. | 76 |
| 38968149 | 2024 | Single-cell genomics details the maturation block in BCP-ALL and identifies therapeutic vulnerabilities in DUX4-r cases. | 74 |
| 37019972 | 2023 | Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication. | 71 |
| 30944321 | 2019 | Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia. | 70 |
| 31779973 | 2019 | How advanced are we in targeting novel subtypes of ALL? | 68 |
| 32029838 | 2020 | Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia. | 66 |
| 38633121 | 2024 | Gene expression prognostic of early relapse risk in low-risk B-cell acute lymphoblastic leukaemia in children. | 64 |
| 38844578 | 2024 | ETV6::RUNX1 Acute Lymphoblastic Leukemia: how much therapy is needed for cure? | 62 |
| 34753926 | 2021 | Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes. | 60 |
| 36670235 | 2023 | Disruption to the FOXO-PRDM1 axis resulting from deletions of chromosome 6 in acute lymphoblastic leukaemia. | 60 |
| 27265895 | 2016 | Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia. | 59 |
| 37469802 | 2023 | Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia. | 59 |
| 34727170 | 2022 | Decreased IL-10 accelerates B-cell leukemia/lymphoma in a mouse model of pediatric lymphoid leukemia. | 58 |
| 39880832 | 2025 | Molecular and pharmacological heterogeneity of ETV6::RUNX1 acute lymphoblastic leukemia. | 55 |
| 27431763 | 2016 | Transcription-coupled genetic instability marks acute lymphoblastic leukemia structural variation hotspots. | 54 |
| 36848637 | 2023 | Classification and genetics of pediatric B-other acute lymphoblastic leukemia by targeted RNA sequencing. | 53 |
| 28854978 | 2017 | The neoepitope landscape in pediatric cancers. | 53 |
| 41813667 | 2026 | Targeting oncogene-induced senescence in ETV6::RUNX1 pre-leukemic cells. | 53 |
| 33646306 | 2021 | Genome-wide interference of ZNF423 with B-lineage transcriptional circuitries in acute lymphoblastic leukemia. | 52 |
| 35963521 | 2022 | Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia. | 52 |
| 32693409 | 2021 | Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia. | 50 |
| 35562965 | 2022 | Multi-Cohort Transcriptomic Subtyping of B-Cell Acute Lymphoblastic Leukemia. | 49 |
| 39555063 | 2024 | WBP1L regulates hematopoietic stem cell function and T cell development. | 48 |
| 29029492 | 2017 | GATA2 regulates the erythropoietin receptor in t(12;21) ALL. | 48 |
| 39498293 | 2024 | Potential molecular mechanisms of ETV6-RUNX1-positive B progenitor cell cluster in acute lymphoblastic leukemia revealed by single-cell RNA sequencing. | 48 |
| 39316653 | 2025 | Outcomes in patients with ETV6::RUNX1 or high-hyperdiploid B-ALL treated in the St. Jude Total Therapy XV/XVI studies. | 46 |
| 36658389 | 2023 | Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia. | 46 |
| 37794795 | 2024 | Susceptibility of pediatric acute lymphoblastic leukemia to STAT3 inhibition depends on p53 induction. | 45 |
| 39070153 | 2024 | Clinical Characteristics and Cytogenetics of Childhood Acute Lymphoblastic Leukemia in a Single Center in Pakistan. | 44 |
| 22237106 | 2012 | The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. | 43 |
| 38426282 | 2024 | B-cell precursor acute lymphoblastic leukemia elicits an interferon-α/β response in bone marrow-derived mesenchymal stroma. | 43 |
| 28387584 | 2017 | Deregulation of the non-coding genome in leukemia. | 42 |
| 35685921 | 2022 | Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population. | 40 |
| 39851542 | 2025 | Imaging Flow Cytometric Identification of Chromosomal Defects in Paediatric Acute Lymphoblastic Leukaemia. | 32 |
| 29254279 | 2017 | Modeling the process of childhood ETV6-RUNX1 B-cell leukemias. | 31 |
| 28548470 | 2017 | Whole-Exome Sequencing of ETV6/RUNX1 in Four Childhood Acute Lymphoblastic Leukaemia Cases. | 29 |
| 31845480 | 2020 | Transmembrane adaptor protein WBP1L regulates CXCR4 signalling and murine haematopoiesis. | 26 |
| 31456164 | 2019 | MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL. | 26 |
| 39259664 | 2025 | The significance of CD49f expression in pediatric B-cell acute lymphoblastic leukemia. | 25 |
| 33987955 | 2021 | RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children. | 22 |
| 31085145 | 2019 | CD9 predicts ETV6-RUNX1 in childhood B-cell precursor acute lymphoblastic leukemia. | 22 |
| 34819303 | 2022 | Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patients. | 21 |
| 38527838 | 2024 | [Use of the ETV6/RUNX1 probe to verify the performance of the fluorescence in situ hybridization probe before clinical detection]. | 18 |
| 34535762 | 2022 | ETV6-RUNX1 and RUNX1 directly regulate RAG1 expression: one more step in the understanding of childhood B-cell acute lymphoblastic leukemia leukemogenesis. | 15 |
| 36741356 | 2023 | Cytokine Hyperresponsiveness in Children With ETV6::RUNX1-positive Acute Lymphoblastic Leukemia After Challenge With Common Pathogens. | 15 |
| 38243088 | 2024 | Ontogeny shapes the ability of ETV6::RUNX1 to enhance hematopoietic stem cell self-renewal and disrupt early lymphopoiesis. | 15 |
| 30168245 | 2018 | A triple-probe FISH screening strategy for risk-stratified therapy of acute lymphoblastic leukaemia in low-resource settings. | 12 |
| 34190688 | 2021 | Dicentric (7;12)(p11;p11) in T/Myeloid Mixed-Phenotype Acute Leukemia. | 11 |
| 27536776 | 2016 | Gene Signature of High White Blood Cell Count in B-Precursor Acute Lymphoblastic Leukemia. | 11 |
| 36538046 | 2023 | ETS Fight Club on Microsatellite Enhancers. | 10 |
| 36045062 | 2023 | First Case of ETV6-RUNX1 Fusion in Adult De Novo Acute Myeloid Leukemia Detected Using Targeted RNA Sequencing. | 10 |
| 29108220 | 2017 | Minimal residual disease in pediatric ALL. | 8 |
| 38824653 | 2024 | ETV6::RUNX1-like Acute Lymphoblastic Leukemia. | 0 |
| 28299659 | 2017 | Mechanism of ETV6-RUNX1 Leukemia. | 0 |
| 37120350 | 2023 | Emerging molecular subtypes and therapies in acute lymphoblastic leukemia. | 0 |
| 28299660 | 2017 | ETV6-RUNX1 (+) Acute Lymphoblastic Leukaemia in Identical Twins. | 0 |
| 34732618 | 2021 | [Down syndrome and acute lymphoblastic leukemia]. | 0 |
| 37407363 | 2023 | Transcription factor abnormalities in B-ALL leukemogenesis and treatment. | 0 |
| 38049152 | 2023 | FLT3 Gene Involvement in B-cell Acute Lymphoblastic Leukemia (B-ALL). | 0 |
| 37157849 | 2023 | Cannibalism in an ETV6::RUNX1 paediatric B acute lymphoblastic leukaemia. | 0 |
| 38215390 | 2024 | CD371-positive pediatric B-cell acute lymphoblastic leukemia: propensity to lineage switch and slow early response to treatment. | 0 |
| 28778863 | 2017 | New oncogenic subtypes in pediatric B-cell precursor acute lymphoblastic leukemia. | 0 |
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| 38588489 | 2024 | Mutational and transcriptional landscape of pediatric B-cell precursor lymphoblastic lymphoma. | 0 |
| 35506873 | 2022 | Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL. | 0 |
| 28063378 | 2017 | Overexpression of PTP4A3 in ETV6-RUNX1 acute lymphoblastic leukemia. | 0 |
| 38341118 | 2024 | Long noncoding RNA expression in acute lymphoblastic leukemia: A systematic review. | 0 |
| 38175376 | 2023 | Mixed-phenotype acute leukemia, T/megakaryoblastic: does it really exist? | 0 |
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| 32898863 | 2021 | Identification of functional cooperative mutations of GNAO1 in human acute lymphoblastic leukemia. | 0 |
| 33245684 | 2020 | Role of rs10406069 in miR-5196 in hyperdiploid childhood acute lymphoblastic leukemia. | 0 |
| 34597466 | 2022 | Clonal dynamics in pediatric B-cell precursor acute lymphoblastic leukemia with very early relapse. | 0 |
| 39592470 | 2024 | Recurrent PAX5::ZCCHC7 rearrangement in B-cell acute lymphoblastic leukemia. | 0 |
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Bibliography
No bibliography items were found for this article.
Summary
Fusion gene
ETV6/RUNX1 ETV6 (12p13.2) RUNX1 (21q22.12) M +der(21)t(12;21)(p13;q22) del(12)(p13p13) ins(12;21)(p13;q22q22) t(11;12;21)(q14;p13;q22) t(12;21)(p13;q22) t(2;12;21)(q33;p13;q22)|ETV6/RUNX1 ETV6 (12p13.2) RUNX1 (21q22.12) TIC
t(12;21)(p13;q22) ETV6/RUNX1 Top : Hybridization with Vysis LSI ETV6/RUNX1 dual color probe (Abbott Molecular, US) showing fused yellow signals on der(12) and der(21) chromosomes (A) and with simultaneous ETV6 deletion (B) - Courtesy Adriana Zamecnikova. t(12;21)(p13;q22) R- bandind and FISH - Courtesy Hossein Mossafa.
Citation
Jean-Loup Huret ; Alain Bernheim ; Jean-Loup Huret
t(12;21)(p13;q22) ETV6/RUNX1
Atlas Genet Cytogenet Oncol Haematol. 1997-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1073/t(12
