t(4;12)(p16;p13) ETV6/FGFR3
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
Epidemiology
only one case to date, a 63 yr old female patient
Prognosis
no data
Genes Involved and Proteins
Gene name
FGFR3 (Fibroblast Growth Factor Receptor 3)
Location
4p16.3
Protein description
115 kDa; contains, from N-term to C- term: an extracellular domain with a signal sequence and 3 Ig-like loops, a transmembrane domain, and an intracellular domain with 2 tyrosine kinase domains. FGFR3 is a fibroblast growth factor receptor with tyrosine kinase activity; binding of ligand (FGF) induces receptor dimerization, autophosphorylation and signal transduction
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 ofr 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
Result of the Chromosomal Anomaly
Description
5 ETV6-3FGFR3; splicing variants (1618 and 1767 bp); the 1767 bp variant is an in frame fusion of ETV6 exon 5 to FGFR3 exon 10; both breakpoints are within exons; no reciprocal transcript.contains, from N-term to C- term, the HLH domain of ETV6 fused to the tyrosine kinase domains of FGFR3
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 11731410 | 2001 | Fusion of ETV6 to fibroblast growth factor receptor 3 in peripheral T-cell lymphoma with a t(4;12)(p16;p13) chromosomal translocation. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11731410 | 2001 | Fusion of ETV6 to fibroblast growth factor receptor 3 in peripheral T-cell lymphoma with a t(4;12)(p16;p13) chromosomal translocation. | Yagasaki F et al |
Summary
Fusion gene
ETV6/FGFR3 ETV6 (12p13.2) FGFR3 (4p16.3) M t(4;12)(p16;p13)|ETV6/FGFR3 ETV6 (12p13.2) FGFR3 (4p16.3) TIC
Citation
Jean-Loup Huret
t(4;12)(p16;p13) ETV6/FGFR3
Atlas Genet Cytogenet Oncol Haematol. 2005-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1343/t(4;12)(p16;p13)-etv6-fgfr3
