t(5;14)(q33;q32) PDGFRB/TRIP11
1998-02-01 Jean-Loup Huret , Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
yet poorly known: 1 case of AML
Clinics
found at relapse with eosinophilia of a M2 AML with t(7;11)
Genes Involved and Proteins
Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
Protein description
PDGFRB is the receptor for PDGFB (platelet-derivedgrowth factor-b); membrane protein; belongs to the immunoglobulinsuperfamily
Gene name
TRIP11 (thyroid hormone receptor interactor 11)
Location
14q32.12
Protein description
contains a N-term leucine zipper and a C-term putative
Protein description
thyroid hormone receptor interacting domain
Result of the Chromosomal Anomaly
Description
5 CEV14 - 3 PDGFRb
Transcript
10 kb fusion transcript (major) and other (minor) transcripts
Description
N-term leucine zipper from CEV14 fused to the transmembrane
Description
domain and the Tyr kinase domain of PDGFRb in C-term; the reciprocal
Description
transcript is not expressed; breakpoints at amino acids 1936 of PDGFRb and
Description
567 of CEV14
Oncogenesis
ectopic constitutive tyrosine kinase activation of PDGFRb may occur
Bibliography
No bibliography items were found for this article.
Citation
Jean-Loup Huret ; Jean-Loup Huret
t(5;14)(q33;q32) PDGFRB/TRIP11
Atlas Genet Cytogenet Oncol Haematol. 1998-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1118/submit-meetings/deep-insight-explorer/
