t(12;21)(p13;q22) ETV6/RUNX1

1997-08-01   Jean-Loup Huret , Alain Bernheim , Jean-Loup Huret 

1.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


B cell ALL

Phenotype stem cell origin

L1 and L2, CD10+


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


standard ALL


CR in all cases; prognosis seems good


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


t(6;12;21), t(3;12;21)

Genes Involved and Proteins

Gene name
ETV6 (ets variant 6)
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))
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

Atlas Image
ETV6 (TEL) and RUNX1 (AML1) breakpoints in the t(12;21) / 5 ETV6 - 3 RUNX1 fusion gene - Courtesy Hossein Mossafa.


TEL-AML1 chimaeric gene; 5 centromere to 3 telomere orientation


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


Helix loop helix of TEL fused to the nearly entire AML1


protein, comprising the Runt domain and the transactivation domain

Highly cited references

Pubmed IDYearTitleCitations
330745272020Precision medicine in acute lymphoblastic leukemia.26
329115362020An intact gut microbiome protects genetically predisposed mice against leukemia.22
324671452021Philadelphia-like acute lymphoblastic leukemia is associated with minimal residual disease persistence and poor outcome. First report of the minimal residual disease-oriented GIMEMA LAL1913.13
342505042021Clinical significance of novel subtypes of acute lymphoblastic leukemia in the context of minimal residual disease-directed therapy.12
321182992020Pro-inflammatory cytokines favor the emergence of ETV6-RUNX1-positive pre-leukemic cells in a model of mesenchymal niche.12
330389822020Molecular markers in ALL: Clinical implications.9
340104072021Toward prevention of childhood ALL by early-life immune training.7
343296062021Pulse therapy with vincristine and dexamethasone for childhood acute lymphoblastic leukaemia (CCCG-ALL-2015): an open-label, multicentre, randomised, phase 3, non-inferiority trial.7
338958092021Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.7
326934092021Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.7
332183522020Single cell characterization of B-lymphoid differentiation and leukemic cell states during chemotherapy in ETV6-RUNX1-positive pediatric leukemia identifies drug-targetable transcription factor activities.7
343368582021The Second Oncogenic Hit Determines the Cell Fate of ETV6-RUNX1 Positive Leukemia.6
330958732020Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia.6
325737122020Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL.6
334001462021Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia.5
339688462021The Prenatal Origin of Childhood Leukemia: Potential Applications for Epidemiology and Newborn Screening.5
329469812020Human pediatric B-cell acute lymphoblastic leukemias can be classified as B-1 or B-2-like based on a minimal transcriptional signature.5
345974662022Clonal dynamics in pediatric B-cell precursor acute lymphoblastic leukemia with very early relapse.4
333688422021Sister chromatid cohesion defects are associated with chromosomal copy number heterogeneity in high hyperdiploid childhood acute lymphoblastic leukemia.4
333865962021The role of minimal residual disease in specific subtypes of pediatric acute lymphoblastic leukemia.4
331649842020Pharmacogenomics of intracellular methotrexate polyglutamates in patients' leukemia cells in vivo.4
330148352020Prognostic Nomogram for Childhood Acute Lymphoblastic Leukemia: A Comprehensive Analysis of 673 Patients.4
323688312020Impact of immunophenotypic characteristics on genetic subgrouping in childhood acute lymphoblastic leukemia: Tokyo Children's Cancer Study Group (TCCSG) study L04-16.4
350844342022Association of Genetic Ancestry With the Molecular Subtypes and Prognosis of Childhood Acute Lymphoblastic Leukemia.3
330484712021Clinical and laboratory features associated with myeloperoxidase expression in pediatric B-lymphoblastic leukemia.3
337437952021Reduction of RUNX1 transcription factor activity by a CBFA2T3-mimicking peptide: application to B cell precursor acute lymphoblastic leukemia.3
323788102020High incidence of RAS pathway mutations among sentinel genetic lesions of Korean pediatric BCR-ABL1-like acute lymphoblastic leukemia.3
349333432022Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.2
350046012021Risk Factors for Childhood Leukemia: Radiation and Beyond.2
349880262021Prognostic Value and Outcome for ETV6/RUNX1-Positive Pediatric Acute Lymphoblastic Leukemia: A Report From the South China Children's Leukemia Group.2
337149762021Profiling chromatin accessibility in pediatric acute lymphoblastic leukemia identifies subtype-specific chromatin landscapes and gene regulatory networks.2
337398522021Favorable Trisomies and ETV6-RUNX1 Predict Cure in Low-Risk B-Cell Acute Lymphoblastic Leukemia: Results From Children's Oncology Group Trial AALL0331.2
337502582021Genomic landscape of B-other acute lymphoblastic leukemia in an adult retrospective cohort with a focus on BCR-ABL1-like subtype.2
338059302021IGF2BP3 Associates with Proliferative Phenotype and Prognostic Features in B-Cell Acute Lymphoblastic Leukemia.2
328988632021Identification of functional cooperative mutations of GNAO1 in human acute lymphoblastic leukemia.2
331705472021The gene expression level of m6A catalytic enzymes is increased in ETV6/RUNX1-positive acute lymphoblastic leukemia.2
330705552021Differing Outcomes of Patients with High Hyperdiploidy and ETV6-RUNX1 Rearrangement in Korean Pediatric Precursor B Cell Acute Lymphoblastic Leukemia.2
332456842020Role of rs10406069 in miR-5196 in hyperdiploid childhood acute lymphoblastic leukemia.2
329840142020A Nomogram for the Prediction of Progression and Overall Survival in Childhood Acute Lymphoblastic Leukemia.2
331935872020Validations of Top and Novel Susceptibility Variants in All-Age Chinese Patients With Acute Lymphoblastic Leukemia.2
354257002022A Nomogram for Predicting Event-Free Survival in Childhood Acute Lymphoblastic Leukemia: A Multicenter Retrospective Study.1
355664072022Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia.1
345357622022ETV6-RUNX1 and RUNX1 directly regulate RAG1 expression: one more step in the understanding of childhood B-cell acute lymphoblastic leukemia leukemogenesis.1
347539262021Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes.1
348193032022Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patients.1
346828512021Curing the Curable: Managing Low-Risk Acute Lymphoblastic Leukemia in Resource Limited Countries.1
345477662021Distinct clinical characteristics of DUX4- and PAX5-altered childhood B-lymphoblastic leukemia.1
345728262021Copy Number Changes and Allele Distribution Patterns of Chromosome 21 in B Cell Precursor Acute Lymphoblastic Leukemia.1
342664122021DNA index as prognostic factor in childhood acute lymphoblastic leukemia in the COG-TARGET database.1
341017582021Investigation of lncRNA-mRNA co-expression network in ETV6-RUNX1-positive pediatric B-cell acute lymphoblastic leukemia.1
338162702021The Prognostic Significance of ZNF384 Fusions in Adult Ph-Negative B-Cell Precursor Acute Lymphoblastic Leukemia: A Comprehensive Cohort Study From a Single Chinese Center.1
328120942020Screening for pre-leukemia TEL-AML1 chromosomal translocation in banked cord blood units: cord blood bank perspective.1
333558732020Woman with Turner syndrome and her child with acute leukemia (a case report).1
325361382020[Clinical characteristics and gene expression profiles in children with ETV6-RUNX1 acute lymphoblastic leukemia].1
319445722020CD304/neuropilin-1 is a very useful and dependable marker for the measurable residual disease assessment of B-cell precursor acute lymphoblastic leukemia.1
359954572022Clinicopathologic and genetic evaluation of B-lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 (iAMP21) in adult patients.0
359851672022PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.0
360112852022Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction.0
357477952022Reduced Dose Intensity of Daunorubicin During Remission Induction for Low-Risk Patients With Acute Lymphoblastic Leukemia: A Retrospective Cohort Study of the Chinese Children's Cancer Group.0
359635212022Sequential approach to improve the molecular classification of childhood acute lymphoblastic leukemia.0
348713732022Impact of high-risk cytogenetics on outcomes for children and young adults receiving CD19-directed CAR T-cell therapy.0
335263732022Precursor B-lineage acute lymphoblastic leukemia patients with aberrant natural killer cell and T cell - lineage antigen expression: experience from a tertiary cancer care center.0
352588552022JACLS ALL-02 SR protocol reduced-intensity chemotherapy produces excellent outcomes in patients with low-risk childhood acute lymphoblastic leukemia.0
349991802022Identification of diagnosis and prognosis gene markers in B-ALL with ETV6-RUNX1 fusion by integrated bioinformatics analysis.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
356859212022Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.0
356441952022[Clinical features and prognosis of childhood B-lineage acute lymphoblastic leukemia expressing the PRAME gene].0
355068732022Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.0
355629652022Multi-Cohort Transcriptomic Subtyping of B-Cell Acute Lymphoblastic Leukemia.0
352947222022In Utero Development and Immunosurveillance of B Cell Acute Lymphoblastic Leukemia.0
349828292022A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins.0
347271702022Decreased IL-10 accelerates B-cell leukemia/lymphoma in a mouse model of pediatric lymphoid leukemia.0
349814322022Newly diagnosed ETV6-RUNX1-positive B-acute lymphoblastic leukemia localized to the left pelvic bone marrow.0
346174332022Characterization of Immunophenotypic Aberrancies with Respect to Common Fusion Transcripts in B-Cell Precursor Acute Lymphoblastic Leukemia: A Report of 986 Indian Patients0
349401232021Molecular Genetics of Pre-B Acute Lymphoblastic Leukemia Sister Cell Lines during Disease Progression.0
347889842021Genetic and genomic analysis of acute lymphoblastic leukaemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials.0
350749942022Erythrophagocytosis in a patient with B-cell acute lymphoblastic leukemia with t(12;21) (p13.2; q22.1); ETV6-RUNX1: Case report and review of the literature.0
343250572021Comparison of Two Quantitative PCR-Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts.0
337253182021Clinical features and chromosomal/genetic aberration in adult acute lymphoblastic leukemia in Japan: results of Fukuoka Blood & Marrow Transplant Group Studies ALL MRD 2002 and 2008.0
345111742021Clinical features and prognosis of children with acute leukemias of ambiguous lineage under different diagnostic criteria.0
341906882021Dicentric (7;12)(p11;p11) in T/Myeloid Mixed-Phenotype Acute Leukemia0
341594012021Hematological characteristics, cytogenetic features, and post-induction measurable residual disease in thymic stromal lymphopoietin receptor (TSLPR) overexpressed B-cell acute lymphoblastic leukemia in an Indian cohort.0
338907262021CRLF2 and IKZF1 abnormalities in Mexican children with acute lymphoblastic leukemia and recurrent gene fusions: exploring surrogate markers of signaling pathways.0
339879552021RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children.0
318948992021CD49f protein expression varies among genetic subgroups of B lymphoblastic leukemia and is distinctly low in KMT2A-rearranged cases.0
347326182021[Down syndrome and acute lymphoblastic leukemia].0
343483052021Cytogenetic and Fluorescence in situ Hybridization Profile of Pediatric Acute Lymphoblastic Leukemia in a University Hospital in South India.0
336463062021Genome-wide interference of ZNF423 with B-lineage transcriptional circuitries in acute lymphoblastic leukemia.0
333339662020Outcomes in Pediatric Acute Lymphoblastic Leukemia-A Single-Center Romanian Experience.0
333279982020[Clinical significance of minimal residual disease in B-lineage acute lymphoblastic leukemia pediatric patients with different fusion gene backgrounds].0
337086242021Diagnostic Utility of IGF2BP1 and Its Targets as Potential Biomarkers in ETV6-RUNX1 Positive B-Cell Acute Lymphoblastic Leukemia.0
333336912020[Efficacy and prognostic factors of the chemotherapy regimen of CCLG-ALL-2008 on pediatric acute lymphoblastic leukemia with ETV6-RUNX1 rearrangement].0
357537552020Type 1 neurofibromatosis in a three-year-old girl with B-lineage acute lymphocytic leukemia: A case report.0
336778682021[Clinical features and prognosis of ETV6-RUNX1-positive childhood B-precursor acute lymphocyte leukemia].0
335428732021Mutations Encountered in Acute Lymphoblastic Leukemia: A Retrospective Study in a Teaching Hospital in Jeddah, Saudi Arabia.0
328361792020Siblings with ETV6/RUNX1-positive B-lymphoblastic leukemia: A single site experience and review of the literature.0
331136072020[Diagnosis of adult Philadelphia chromosome-like acute lymphoblastic leukemia by fluorescence in situ hybridization].0
333766952020Molecular Detection of Fusion Oncogenes in Zambian Patients with Acute Lymphoblastic Leukemia.0
321143712020Osteopontin-c is overexpressed in KMT2A-AFF1 positive pediatric B-cell lymphoblastic leukemia when compared to those with ETV6-RUNX1".0
325720362020Evidence for a role of RUNX1 as recombinase cofactor for TCRβ rearrangements and pathological deletions in ETV6-RUNX1 ALL.0


No bibliography items were found for this article.


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
Atlas Image
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.


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;21)(p13;q22)-etv6-runx1