t(1;12)(q25;p13) ETV6/ABL2

2000-02-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

acute myeloid leukemia (AML)

Phenotype stem cell origin

M4Eo AML

Epidemiology

only one case available

Genes Involved and Proteins

Gene name
ABL2 (Abelson homolog 2)
Location
1q25.2
Protein description
tyrosine kinase; closely related to ABL1
Gene name
ETV6 (ets variant 6)
Location
12p13.2
Dna rna description
alternative transcripts
Protein description
belong to the ETS transcription factors family characterized by the ETS domain, domain which is responsible for the sequence specific DNA-binding activity

Result of the Chromosomal Anomaly

Transcript

both reciprocal transcripts are detected

Description

the fusion protein is composed of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase domains of ABL2

Highly cited references

Pubmed IDYearTitleCitations
223735492012Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia.9
124060852002Identification of an ETV6-ABL2 fusion transcript in combination with an ETV6 point mutation in a T-cell acute lymphoblastic leukaemia cell line.6

Bibliography

Pubmed IDLast YearTitleAuthors
105900831999The tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts.Cazzaniga G et al
103977411999NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15).Nakamura T et al

Summary

Fusion gene

ETV6/ABL2 ETV6 (12p13.2) ABL2 (1q25.2) M t(1;10;12)(q25;p13;p13) t(1;12)(q25;p13)|ETV6/ABL2 ETV6 (12p13.2) ABL2 (1q25.2) TIC

Citation

Jean-Loup Huret

t(1;12)(q25;p13) ETV6/ABL2

Atlas Genet Cytogenet Oncol Haematol. 2000-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1147/t0112id1147

External Links