| 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 : Sun Jul 12 19:45:50 CEST 2020 |
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