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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(5;17)(q33;p13) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: October 2008 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0517q33p13ID1328.html DOI: 10.4267/2042/44588 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology 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. Clinics and pathology Disease Chronic myelomonocytic leukemia Result of the chromosomal anomaly Epidemiology Only one case to date, a 29 year old male patient (Magnusson et al., 2001). Hybrid gene Cytogenetics Additional anomalies Description 5' RABEP1- 3' PDGFRb; no reciprocal transcript. Sole anomaly. Fusion protein Genes involved and proteins 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. 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. References Magnusson MK, Meade KE, Brown KE, Arthur DC, Krueger LA, Barrett AJ, Dunbar CE. Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. Blood. 2001 Oct 15;98(8):2518-25 RABEP1 This article should be referenced as such: Location 17p13 Atlas Genet Cytogenet Oncol Haematol. 2009; 13(10) Huret JL. t(5;17)(q33;p13). Atlas Genet Cytogenet Oncol Haematol. 2009; 13(10):744. 744