| Clinics and Pathology |
| Disease | only one case available to date: a 54 yr old man with chronic myelomonocytic leukaemia |
| Prognosis | yet unknown |
| Genes involved and Proteins |
| Gene Name | PDGFRB |
| Location | 5q33 |
| Protein | contains from N-term to C-term: a ligand binding domain, a transmembrane domain, and a Tyrosine kinase domain; PDGFRB is the receptor for PDGFB (platelet-derived growth factor-b); membrane protein; belongs to the immunoglobulin superfamily |
| Gene Name | HIP1 |
| Location | 7q11 |
| Protein | contains a leucine zipper and, in C-term, a region with homology to a protein of the cytoskeleton; membrane associated protein. |
| Result of the chromosomal anomaly |
| Description | 5' HIP1- 3' PDGFRb; breakpoint in PDGFRb similar to what is found in the t(5;12)(q33;p12) |
| Description | 180 kDa; contained nearly all of the HIP1 coding sequence, including the leucine zipper and talin homology domains, fused in frame to the transmembrane and tyrosine kinase domain of the PDGFb; the reciprocal PDGFb-HIP1 transcript is not expressed |
| Oncogenesis | constitutive activation of PDGFb (by tyrosine autophosphorylation). |
| External links |
| Other database | t(5;7)(q33;q11) | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;7)(q33;q11) | CancerChromosomes (NCBI) |
| 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 Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). |
| Ross TS, Bernard OA, Berger R, Gilliland DG |
| Blood. 1998 ; 91 (12) : 4419-4426. |
| PMID 9616134 |
| Contributor(s) |
| Written | 08-1998 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(5;7)(q33;q11). Atlas Genet Cytogenet Oncol Haematol. August 1998 . URL : http://AtlasGeneticsOncology.org/Genes/t057ID1062.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:06:49 2008 |
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