| Clinics and Pathology |
| Disease | yet poorly known: 1 case of ANLL |
| Clinics | found at relapse with eosinophilia of a M2 ANLL with t(7;11) |
| Cytogenetics |
| Cytogenetics Morphological | so far found as an additional anomaly in a clone bearing a t(7;11)(p15;p15) |
| 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 | CEV14 |
| Location | 14q32 |
| Protein | contains a N-term leucine zipper and a C-term putative thyroid hormone receptor interacting domain |
| Result of the chromosomal anomaly |
| Description | 5' CEV14 - 3' PDGFRb |
| Transcript | 10 kb fusion transcript (major) and other (minor) transcripts |
| Description | N-term leucine zipper from CEV14 fused to the transmembrane domain and the Tyr kinase domain of PDGFRb in C-term; the reciprocal transcript is not expressed; breakpoints at amino acids 1936 of PDGFRb and 567 of CEV14 |
| Oncogenesis | ectopic constitutive tyrosine kinase activation of PDGFRb may occur |
| External links |
| Other database | t(5;14)(q33;q32) PDGFRB/TRIP11 | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;14)(q33;q32) PDGFRB/TRIP11 | CancerChromosomes (NCBI) |
| To be noted |
| the above t(5;14)(q33;q32) with PDGFRb and CEV14 rearrangements must not be confused with the t(5;14)(q31;q32) with IL3 and IgH involvements found in ALL. |
| Bibliography |
| Acute myeloblastic leukemia (M2) with translocation (7;11) followed by marked eosinophilia and additional abnormalities of chromosome 5. |
| Abe A, Tanimoto M, Towatari M, Matsuoka A, Kitaori K, Kato H, Toyozumi H, Takeo T, Adachi K, Emi N |
| Cancer genetics and cytogenetics. 1995 ; 83 (1) : 37-41. |
| PMID 7656202 |
| Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. |
| Abe A, Emi N, Tanimoto M, Terasaki H, Marunouchi T, Saito H |
| Blood. 1997 ; 90 (11) : 4271-4277. |
| PMID 9373237 |
| Contributor(s) |
| Written | 02-1998 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(5;14)(q33;q32) PDGFRB/TRIP11. Atlas Genet Cytogenet Oncol Haematol. February 1998 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0514ANL.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:23 2008 |
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