Download Leukaemia Section t(5;17)(q33;p13) Atlas of Genetics and Cytogenetics in Oncology and Haematology

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