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 , thyroid hormone receptor interacting domain
Gene name
TRIP11 (thyroid hormone receptor interactor 11)
Location
14q32.12
Protein description
contains a N-term leucine zipper and a C-term putative

Result of the Chromosomal Anomaly

Description

5 CEV14 - 3 PDGFRb , domain and the Tyr kinase domain of PDGFRb in C-term; the reciprocal , transcript is not expressed; breakpoints at amino acids 1936 of PDGFRb and , 567 of CEV14

Transcript

10 kb fusion transcript (major) and other (minor) transcripts

Description

N-term leucine zipper from CEV14 fused to the transmembrane

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)-pdgfrb-trip11

External Links