t(5;14)(q33;q32) PDGFRB/TRIP11

1998-02-01   Jean-Loup Huret , Jean-Loup Huret 

1.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/t(5;14)(q33;q32)