Download Leukaemia Section t(5;12)(q33;q24) 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;12)(q33;q24)
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/t0512q33q24ID1544.html
DOI: 10.4267/2042/44692
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
GIT2
Clinics and pathology
Location
12q24
Protein
Numerous isoforms; the longest is made of 759 amino
acids; comprises an Arf-GAP domain (amino acids 1124), zinc-fingers (11-34), ankyrin repeats (132-161,
166-195, 199-228, according to Swiss-Prot), a Spa2homology domain, a coiled-coil domain (leucine
zipper), and a paxillin-binding site (643-679). GIT1
and GIT2 belong to the family of ADP-ribosylation
factor GTPase-activating proteins (ARF-GAP). GIT1
and GIT2 form homodimers and heterodimers which
bind in oligomeric complex to the p21-activated
kinase-interacting exchange factor proteins ARHGEF6
and ARHGEF7, to regulate the small GTP-binding
proteins RAC1 and CDC42. Associates with paxillin,
and with phospholipase C (PLCG). GIT1 and GIT2
also participate in receptor internalization by regulating
membrane trafficking (Hoefen and Berk, 2006).
Disease
Chronic myeloproliferative disease with eosino-philia
Epidemiology
Only one case to date, a 67-year-old male patient with a
five years history of eosinophilia.
Prognosis
The patient was alive and well after 16 months of
therapy with imatinib.
Cytogenetics
Cytogenetics morphological
The t(5;12) was the sole anomaly.
Genes involved and proteins
PDGFRB
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.
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(2)
Result of the chromosomal
anomaly
Hybrid gene
Description
5' GIT2 - 3' PDGFRB. In-frame fusion between exon
12 of GIT2, and exon 11 of PDGFRB.
References
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
159
t(5;12)(q33;q24)
Huret JL
Hoefen RJ, Berk BC. The multifunctional GIT family of
proteins. J Cell Sci. 2006 Apr 15;119(Pt 8):1469-75
platelet-derived growth factor receptor
Haematologica. 2007 Feb;92(2):163-9
Walz C, Metzgeroth G, Haferlach C, Schmitt-Graeff A,
Fabarius A, Hagen V, Prümmer O, Rauh S, Hehlmann R,
Hochhaus A, Cross NC, Reiter A. Characterization of three
new
imatinib-responsive
fusion
genes
in
chronic
myeloproliferative disorders generated by disruption of the
This article should be referenced as such:
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(2)
beta
gene.
Huret JL. t(5;12)(q33;q24). Atlas Genet Cytogenet Oncol
Haematol. 2010; 14(2):159-160.
160