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t(5;12)(q33;p13) ETV6/PDGFRB

Identity

Note this translocation must not be confused with the t(5;12)(q31;p13) found in an ALL cell line with IL3 and ETV6 involvements
 
  t(5;12)(q33;p13) G- banding (left) and R- banding (right) - Courtesy Franck Viguié

Clinics and Pathology

Disease myeloide lineage
Phenotype / cell stem origin myeloproliferative/myelodysplastic syndrome (intermediate between CML and CMML) with eosinophilia; appear to be a specific entity
Epidemiology rarely described; mostly in adult male patients (13 of 14 cases herein reviewed)
Clinics organomegaly in 9 of 12 cases; blood data: median WBC: 40 X 109/l; numerous eosinophils: median 2.8 X 109/l, range 0.8-128 X 109/l, n=9 (normal range is 0.02-0.45 X 109/l), and, at times, of monocytes; no blast cells
Treatment hydroxyurea alone or polychemotherapy have been essayed
Prognosis yet partly undetermined; median survival < 20 mths (n= 11)

Cytogenetics

Additional anomalies +8

Genes involved and Proteins

Gene Name PDGFRB
Location 5q33
Protein PDGFRB is the receptor for PDGFB (platelet-derived growth factor-b); membrane protein; belongs to the immunoglobulin superfamily
Gene Name ETV6
Location 12p13
Dna / Rna 9 exons; alternate splicing
Protein contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor

Result of the chromosomal anomaly

Hybrid gene
Description 5' ETV6 - 3' PDGFRB
  
Fusion Protein
Description N-term HLH domain of ETV6 fused to the transmembrane domain and the Tyr kinase domain of PDGFRb in C-term; the reciprocal transcript is not expressed
  

Other genes implicated (Data extracted from papers in the Atlas)

Genes ETV6 PDGFRB

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;12)(q33;p13) ETV6/PDGFRB

External links

Mitelman database Mitelman database (CGAP - NCBI)
t(5;12)(q33;p13) - Mitelman database (CGAP - NCBI)

Bibliography

Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation.
Golub TR, Barker GF, Lovett M, Gilliland DG
Cell. 1994 ; 77 (2) : 307-316.
PMID 8168137
 
TEL gene is involved in myelodysplastic syndromes with either the typical t(5;12)(q33;p13) translocation or its variant t(10;12)(q24;p13).
Wlodarska I, Mecucci C, Marynen P, Guo C, Franckx D, La Starza R, Aventin A, Bosly A, Martelli MF, Cassiman JJ
Blood. 1995 ; 85 (10) : 2848-2852.
PMID 7742547
 
Myelodysplastic syndrome with t(5;12)(q31;p12-p13) and eosinophilia: a pediatric case with review of literature.
Pellier I, Le Moine PJ, Rialland X, FranąŖois S, Baranger L, Blanchet O, Larget-Piet L, Ifrah N
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology. 1996 ; 18 (3) : 285-288.
PMID 8689343
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

Contributor(s)

Written01-1998Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL
t(5;12)(q33;p13) ETV6/PDGFRB;
Atlas Genet Cytogenet Oncol Haematol. January 1998
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Anomalies/t0512.html

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indexed on : Sat Jul 26 14:18:18 CEST 2014


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