Download Leukaemia Section t(5;11)(q33;p13) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Leukaemia Section
Short Communication
t(5;11)(q33;p13)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: March 2009
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0511q33p13ID1543.html
DOI: 10.4267/2042/44691
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology
region (360-381), with, from 372 to 380 (FIQDSMLD),
the conserved motif: F(M/I/L)Q(D/E)Sx(I/L)D
(Solomon et al., 2007). Cytoplasmic phosphoprotein
essential for normal cellular proliferation; CAPRIN1
occurs in mes-senger ribonucleoprotein particles that
also contain RNA binding proteins; CAPRIN1/ G3BP1
comp-lexes occur in RNA granules called cytoplasmic
stress granules, which form in stressed cells. CAPRIN1
induces phosphorylation of eIF-2alpha. CAPRIN1
selectively binds mRNA for c-MYC and CCND2
(cyclin D2) (Solomon et al., 2007).
Clinics and pathology
Disease
Chronic myeloproliferative disease with eosinophilia
Epidemiology
Only one case to date, a 59-year-old male patient.
Cytogenetics
Cytogenetics morphological
The translocation was complex.
Genes involved and proteins
Result of the chromosomal
anomaly
PDGFRB
Hybrid gene
Location
5q33
Protein
Comprises an extracellular part with 5 Ig-like C2 type
domains, a transmembrane domain, and an intracellular
part with a tyrosine kinase domain (made of two
tyrosine kinase subdomains) for transduction of the
signal. Receptor tyrosine kinase; receptor for PDGFB
and PDGFD (Bergsten et al., 2001); forms
homodimers, or heterodimer with PDGFRA; upon
dimerization,
subsequent
activa-tion
by
autophosphorylation of the tyrosine kinase intracellular
domains occurs.
Description
5' CAPRIN1 - 3' PDGFRB. In-frame fusion bet-ween
exon 7 of CAPRIN1 and exon 11 of PDGFRB.
Fusion protein
Oncogenesis
The coiled-coil domains from CAPRIN1 would favour
dimerization, with subsequent constitutive activation of
the PDGFRB tyrosine kinase domain.
References
CAPRIN1
Bergsten E, Uutela M, Li X, Pietras K, Ostman A, Heldin CH,
Alitalo K, Eriksson U. PDGF-D is a specific, protease-activated
ligand for the PDGF beta-receptor. Nat Cell Biol. 2001
May;3(5):512-6
Location
11p13
Protein
709 amino acids. Comprises two coiled coil regions
(amino acids 60-94 and 125-153) and a G3BP1-binding
Solomon S, Xu Y, Wang B, David MD, Schubert P, Kennedy D,
Schrader JW. Distinct structural features of caprin-1 mediate
its interaction with G3BP-1 and its induction of phosphorylation
of eukaryotic translation initiation factor 2alpha, entry to
cytoplasmic stress granules, and selective interaction with a
subset of mRNAs. Mol Cell Biol. 2007 Mar;27(6):2324-42
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(2)
157
t(5;11)(q33;p13)
Huret JL
Walz C, Metzgeroth G, Haferlach C, Schmitt-Graeff A,
Fabarius A, Hagen V, Prümmer O, Rauh S, Hehlmann R,
This article should be referenced as such:
Huret JL. t(5;11)(q33;p13). Atlas Genet Cytogenet Oncol
Haematol. 2010; 14(2):157-158.
Hochhaus A, Cross NC, Reiter A. Characterization of three
new
imatinib-responsive
fusion
genes
in
chronic
myeloproliferative disorders generated by disruption of the
platelet-derived growth factor receptor beta gene.
Haematologica. 2007 Feb;92(2):163-9
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(2)
158