Atlas of Genetics and Cytogenetics in Oncology and Haematology

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


  t(12;21)(p13;q22) R- bandind and FISH - Courtesy Hossein Mossafa.

Clinics and Pathology

Disease B cell ALL
Phenotype / cell stem origin L1 and L2, CD10+
Epidemiology 15 to 35% of paediatric B-lineage ALL: so far the most frequent translocation in this group; rare or absent in adults and in infants; age: children; no case >20 yrs so far; male and female equally represented
Clinics standard ALL
Prognosis 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 or specific probes
Additional anomalies frequent del(12)(p12) on the other chromosome; in rare cases 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
Location 12p12
Protein contains a HLH domain and a ETS-DNA binding domain; ETS-related transcription factor
Gene Name AML1
Location 21q22
Dna / Rna transcription is from telomere to centromere
Protein 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

Hybrid gene
  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 crucial one; the AML1-TEL transcript is absent in some cases; the other TEL allele is often deleted.
Detection RT-PCR of the fusion transcript
Fusion Protein
Description Helix loop helix of TEL fused to the nearly entire AML1 protein, comprising the Runt domain and the transactivation domain

Other genes implicated (Data extracted from papers in the Atlas)

Genes RUNX1 ETV6 MIR100

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;21)(p13;q22) ETV6/RUNX1

External links

Mitelman database Mitelman database (CGAP - NCBI)
t(12;21)(p13;q22) - Mitelman database (CGAP - NCBI)
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMapTopo ( C42) Morph ( 9814/3) - arrayMap (Zurich)


High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffˆ© M, Jonveaux P, Macintyre EA, Berger R, Bernard OA
Blood. 1995 ; 86 (11) : 4263-4269.
PMID 7492786
The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia.
Raynaud S, Cave H, Baens M, Bastard C, Cacheux V, Grosgeorge J, Guidal-Giroux C, Guo C, Vilmer E, Marynen P, Grandchamp B
Blood. 1996 ; 87 (7) : 2891-2899.
PMID 8639909
Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation.
Golub TR, Barker GF, Lovett M, Gilliland DG
Cell. 1994 ; 77 (2) : 307-316.
PMID 8168137
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


Written08-1997Jean-Loup Huret and Alain Bernheim
Laboratoire de Cytogénétique, UMR 1599 CNRS, Institut Gustave Roussy, 94805 Villejuif, France


This paper should be referenced as such :
Huret JL and Bernheim A
t(12;21)(p13;q22) ETV6/RUNX1;
Atlas Genet Cytogenet Oncol Haematol. August 1997
Free online version   Free pdf version   [Bibliographic record ]

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indexed on : Sat Jul 26 14:19:12 CEST 2014

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