| 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 |
| Gene Name | 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 activation by autophosphorylation of the tyrosine kinase intracellular domains occurs. |
| Gene Name | CAPRIN1 |
| Location | 11p13 |
| Protein | 709 amino acids. Comprises two coiled coil regions (amino acids 60-94 and 125-153) and a G3BP1-binding 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 messenger ribonucleoprotein particles that also contain RNA binding proteins; CAPRIN1/ G3BP1 complexes 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). |
| Result of the chromosomal anomaly |
| Description | 5' CAPRIN1 - 3' PDGFRB. In-frame fusion between exon 7 of CAPRIN1 and exon 11 of PDGFRB. |
| Oncogenesis | The coiled-coil domains from CAPRIN1 would favour dimerization, with subsequent constitutive activation of the PDGFRB tyrosine kinase domain. |
| External links |
| Other database | t(5;11)(q33;p13) | Mitelman database (CGAP - NCBI) |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| PDGF-D is a specific, protease-activated ligand for the PDGF beta-receptor. |
| Bergsten E, Uutela M, Li X, Pietras K, Ostman A, Heldin CH, Alitalo K, Eriksson U. |
| Nat Cell Biol. 2001 May;3(5):512-6. |
| PMID 11331881 |
| 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. |
| Solomon S, Xu Y, Wang B, David MD, Schubert P, Kennedy D, Schrader JW. |
| Mol Cell Biol. 2007 Mar;27(6):2324-42. Epub 2007 Jan 8. |
| PMID 17210633 |
| Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor beta gene. |
| Walz C, Metzgeroth G, Haferlach C, Schmitt-Graeff A, Fabarius A, Hagen V, Prummer O, Rauh S, Hehlmann R, Hochhaus A, Cross NC, Reiter A. |
| Haematologica. 2007 Feb;92(2):163-9. |
| PMID 17296564 |
| Contributor(s) |
| Written | 03-2009 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(5;11)(q33;p13). Atlas Genet Cytogenet Oncol Haematol. March 2009 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0511q33p13ID1543.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/44691/1/03-2009-t0511q33p13ID1543.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:14 CET 2013 |
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