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t(5;7)(q33;q11) HIP1/PDGFRB

Written1998-08Jean-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 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1062

Clinics and Pathology

Disease only one case available to date: a 54 yr old man with chronic myelomonocytic leukaemia
Prognosis yet unknown

Genes involved and Proteins

Gene Name PDGFRB
Location 5q33
Protein contains from N-term to C-term: a ligand binding domain, a transmembrane domain, and a Tyrosine kinase domain; PDGFRB is the receptor for PDGFB (platelet-derived growth factor-b); membrane protein; belongs to the immunoglobulin superfamily
Gene Name HIP1
Location 7q11
Protein contains a leucine zipper and, in C-term, a region with homology to a protein of the cytoskeleton; membrane associated protein.

Result of the chromosomal anomaly

Hybrid gene
Description 5' HIP1- 3' PDGFRb; breakpoint in PDGFRb similar to what is found in the t(5;12)(q33;p12)
  
Fusion Protein
Description 180 kDa; contained nearly all of the HIP1 coding sequence, including the leucine zipper and talin homology domains, fused in frame to the transmembrane and tyrosine kinase domain of the PDGFb; the reciprocal PDGFb-HIP1 transcript is not expressed
Oncogenesis constitutive activation of PDGFb (by tyrosine autophosphorylation).
  

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

Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2).
Ross TS, Bernard OA, Berger R, Gilliland DG
Blood. 1998 ; 91 (12) : 4419-4426.
PMID 9616134
 

Citation

This paper should be referenced as such :
Huret, JL
t(5;7)(q33;q11)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(4):142-142.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t057ID1062.html


Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes HIP1 PDGFRB

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;7)(q33;q11) HIP1/PDGFRB

External links

HIP1 (7q11.23) PDGFRB (5q32)

HIP1 (7q11.23) PDGFRB (5q32)

Mitelman databaset(5;7)(q33;q11) [Case List]    t(5;7)(q33;q11) [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 ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseHIP1/PDGFRB [MCList]  HIP1 (7q11.23) PDGFRB (5q32)
TICdbHIP1/PDGFRB  HIP1 (7q11.23) PDGFRB (5q32)
 
Disease databaset(5;7)(q33;q11) HIP1/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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