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t(5;11)(q33;p13) CAPRIN1/PDGFRB

Written2009-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1543

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

Hybrid gene
Description 5' CAPRIN1 - 3' PDGFRB. In-frame fusion between 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.
  

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
 

Citation

This paper should be referenced as such :
Huret, JL
t(5;11)(q33;p13)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(2):157-158.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0511q33p13ID1543.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;11)(q33;p13) CAPRIN1/PDGFRB

External links

Mitelman databaset(5;11)(q33;p13) [Case List]    t(5;11)(q33;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9966/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(5;11)(q33;p13) CAPRIN1/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Fri Jun 30 11:23:12 CEST 2017


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