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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;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