Written | 2005-08 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
Atlas_Id | 1343 |
Clinics and Pathology |
Disease | Peripheral T-cell lymphoma |
Epidemiology | only one case to date, a 63 yr old female patient |
Prognosis | no data |
Cytogenetics |
Additional anomalies | were found |
Genes involved and Proteins |
Gene Name | FGFR3 (Fibroblast Growth Factor Receptor 3) |
Location | 4p16.3 |
Protein | 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 | 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' ETV6-3'FGFR3; 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. |
Description | contains, from N-term to C- term, the HLH domain of ETV6 fused to the tyrosine kinase domains of FGFR3 |
To be noted |
Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
Bibliography |
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, Wakao D, Yokoyama Y, Uchida Y, Murohashi I, Kayano H, Taniwaki M, Matsuda A, Bessho M |
Cancer research. 2001 ; 61 (23) : 8371-8374. |
PMID 11731410 |
Citation |
This paper should be referenced as such : |
Huret, JL |
t(4;12)(p16;p13) |
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):16-16. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0412p16p13ID1343.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
Genes | ETV6 |
Translocations implicated (Data extracted from papers in the Atlas) |
t(4;12)(p16;p13) ETV6/FGFR3 | |
External links |
Mitelman database | t(4;12)(p16;p13) |
arrayMap (UZH-SIB Zurich) | [select an item] |
Mitelman database | ETV6/FGFR3 [MCList] ETV6 (12p13.2) FGFR3 (4p16.3) |
TICdb | ETV6/FGFR3 ETV6 (12p13.2) FGFR3 (4p16.3) |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:25:46 CET 2020 |
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