Atlas of Genetics and Cytogenetics in Oncology and Haematology
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 |
| Description | 5' ETV6 - 3' PDGFRB |
| 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 |
| External links |
| Other database | t(5;12)(q33;p13) ETV6/PDGFRB | 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, Franˆßois 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 |
| Contributor(s) |
| Written | 01-1998 | Jean-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 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0512.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/handle/2042/32107/01-1998-t0512.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:16 CET 2013 |
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