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
123999652002The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia.Lu XY et al

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

External Links