| Clinics and Pathology |
| Disease | Chronic myelomonocytic leukemia |
| Epidemiology | Only one case to date, a 29 year old male patient (Magnusson et al., 2001). |
| Cytogenetics |
| Additional anomalies | Sole anomaly. |
| Genes involved and Proteins |
| Gene Name | PDGFRb |
| Location | 5q33 |
| Protein | 1106 amino acids. Composed from NH2 to COOH of: Ig-like extracellular domains, a transmembrane domain, and a cytosolic tyrosine kinase domain. Tyrosine kinase membrane receptor. |
| Gene Name | RABEP1 |
| Location | 17p13 |
| Protein | 826 amino acids protein with coiled-coil domains (dimerization) and a NH2-term RAB4 binding site, and a COOH-term RAB5 binding site. Role in endocytosis. |
| Result of the chromosomal anomaly |
| Description | 5' RABEP1- 3' PDGFRb; no reciprocal transcript. |
| Description | 1318 amino acids (aa) fusion protein, including most of RABEP1 (the first 739 aa) with 3 and one half of the 4 coiled-coil domains, fused to the transmembrane and intracytosolic tyrosine kinase domains of PDGFRb. |
| External links |
| Other database | t(5;17)(q33;p13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;17)(q33;p13) | 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 |
| Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. |
| Magnusson MK, Meade KE, Brown KE, Arthur DC, Krueger LA, Barrett AJ, Dunbar CE. |
| Blood. 2001 Oct 15;98(8):2518-25. |
| PMID 11588050 |
| Contributor(s) |
| Written | 10-2008 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(5;17)(q33;p13). Atlas Genet Cytogenet Oncol Haematol. October 2008 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0517q33p13ID1328.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:45:53 CET 2010 |
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