t(12;14)(p13;q32) IGH/ETV6

2005-08-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

Acute lymphoblastic leukemia

Phenotype stem cell origin

pre B ALL.

Epidemiology

Only one case to date; no age nor gender data.

Prognosis

No data.

Cytogenetics

Cytogenetics molecular

Cryptic translocation; recognized by multicolor FISH plus locus-specific FISH.

Additional anomalies

Hyperploidy (57 chromosomes).

Genes Involved and Proteins

Gene name
ETV6 (ets variant 6)
Location
12p13.2
Protein description
53 and 57 kDa; contains, from N-term to C- term, an helix-loop-helix (HLH) domain (or "sterile alpha domain" SAM) responsible of dimerization, and a sequence specific DNA-binding domain (ETS domain); binds to 5 CCGGAAGT 3; ETV6 is a member of the ETS family of transcription factors; transcriptional repressor.
Gene name
IGH (Immunoglobulin Heavy)
Location
14q32.33

Bibliography

Pubmed IDLast YearTitleAuthors

Summary

Fusion gene

IGH/ETV6 IGH (14q32.33) ETV6 (12p13.2) M t(12;14)(p13;q32)

Citation

Jean-Loup Huret

t(12;14)(p13;q32) IGH/ETV6

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1368/hgnc