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t(5;12)(q33;q24) GIT2/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 1544

Clinics and Pathology

Disease Chronic myeloproliferative disease with eosinophilia
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

Gene NamePDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location 5q32
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 NameGIT2 (GIT ArfGAP 2)
Location 12q24.11
Protein Numerous isoforms; the longest is made of 759 amino acids; comprises an Arf-GAP domain (amino acids 1-124), zinc-fingers (11-34), ankyrin repeats (132-161, 166-195, 199-228, according to Swiss-Prot), a Spa2-homology 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).

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.
  

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
 
The multifunctional GIT family of proteins.
Hoefen RJ, Berk BC.
J Cell Sci. 2006 Apr 15;119(Pt 8):1469-75. (REVIEW)
PMID 16598076
 
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;12)(q33;q24)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(2):159-160.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0512q33q24ID1544.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;12)(q33;q24) GIT2/PDGFRB

External links

GIT2 (12q24.11) PDGFRB (5q32)

GIT2 (12q24.11) PDGFRB (5q32)

Mitelman databaset(5;12)(q33;q24) [Case List]    t(5;12)(q33;q24) [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]
 
Mitelman databaseGIT2/PDGFRB [MCList]  GIT2 (12q24.11) PDGFRB (5q32)
TICdbGIT2/PDGFRB  GIT2 (12q24.11) PDGFRB (5q32)
 
Disease databaset(5;12)(q33;q24) GIT2/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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