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t(4;12)(p16;p13) ETV6/FGFR3

Written2005-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

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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 NameFGFR3 (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 NameETV6 (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

Hybrid gene
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.
  
Fusion Protein
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

arrayMap (UZH-SIB Zurich)ETV6 (12p13.2) FGFR3 (4p16.3)

ETV6 (12p13.2) FGFR3 (4p16.3)

Mitelman databaset(4;12)(p16;p13) [Case List]    t(4;12)(p16;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
Mitelman databaseETV6/FGFR3 [MCList]  ETV6 (12p13.2) FGFR3 (4p16.3)
TICdbETV6/FGFR3  ETV6 (12p13.2) FGFR3 (4p16.3)
 
Disease databaset(4;12)(p16;p13) ETV6/FGFR3
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Mon Sep 18 17:19:30 CEST 2017


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jlhuret@AtlasGeneticsOncology.org.