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 , localisation; transcription factor (activator) for various , hematopoietic-specific genes
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

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 , protein, comprising the Runt domain and the transactivation domain


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


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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

External Links