t(12;14)(p13;q32) IGH/ETV6
2005-08-01 Jean-Loup Huret Affiliation1.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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12399965 | 2002 | The 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
