Download Leukaemia Section t(5;7)(q33;q11) 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;7)(q33;q11)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Published in Atlas Database: August 1998
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t057ID1062.html
DOI: 10.4267/2042/37462
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Clinics and pathology
Results of the chromosomal
anomaly
Disease
Only one case available to date: a 54 yr old man with
chronic myelomonocytic leukaemia.
Prognosis
Yet unknown.
Hybrid gene
Genes involved and Proteins
Fusion protein
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).
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.
HIP1
References
Location: 7q11
Protein
Contains a leucine zipper and, in C-term, a region with
homology to a protein of the cytoskeleton; membrane
associated protein.
Ross TS, Bernard OA, Berger R, Gilliland DG. Fusion of
Huntingtin Interacting Protein to Platelet-Derived Growth
Factor beta Receptor (PDGF betaR) in Chronic
Myelomonocytic Leukemia with t(5;7)(q33;q11.2). Blood, Vol
91 No. 12 (June 15), 1998: 4419-26.
This article should be referenced as such:
Huret JL. t(5;7)(q33;q11). Atlas Genet Cytogenet Oncol
Haematol.1998;2(4):142.
Atlas Genet Cytogenet Oncol Haematol. 1998;2(4)
142