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

1998-08-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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 (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
Protein description
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 (Huntingtin interactin protein 1)
Location
7q11.23
Protein description
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

Description

5 HIP1- 3 PDGFRb; breakpoint in PDGFRb similar to what is found in the t(5;12)(q33;p12)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).

Highly cited references

Pubmed IDYearTitleCitations
221693002011[Application of reverse transcription-multiplex nested PCR to detect PDGFRB gene rearrangement in myeloproliferative disorders].0

Article Bibliography

Pubmed IDLast YearTitleAuthors
96161341998Fusion 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 et al

Summary

Fusion gene

HIP1/PDGFRB HIP1 (7q11.23) PDGFRB (5q32) M t(5;7)(q32;q11)|HIP1/PDGFRB HIP1 (7q11.23) PDGFRB (5q32) TIC

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 1998-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1062/t(5