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

Written1998-02Jean-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 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
Atlas_Id 1118

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)

Cytogenetics

Cytogenetics Morphological so far found as an additional anomaly in a clone bearing a t(7;11)(p15;p15)

Genes involved and Proteins

Gene Name PDGFRB
Location 5q33
Protein PDGFRB is the receptor for PDGFB (platelet-derived growth factor-b); membrane protein; belongs to the immunoglobulin superfamily
Gene Name TRIP11
Location 14q32
Protein contains a N-term leucine zipper and a C-term putative thyroid hormone receptor interacting domain

Result of the chromosomal anomaly

Hybrid gene
Description 5' CEV14 - 3' PDGFRb
Transcript 10 kb fusion transcript (major) and other (minor) transcripts
  
Fusion Protein
Description N-term leucine zipper from CEV14 fused to the transmembrane 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
Oncogenesis ectopic constitutive tyrosine kinase activation of PDGFRb may occur
  

To be noted

the above t(5;14)(q33;q32) with PDGFRb and CEV14 rearrangements must not be confused with the t(5;14)(q31;q32) with IL3 and IgH involvements found in ALL.

Bibliography

Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution.
Abe A, Emi N, Tanimoto M, Terasaki H, Marunouchi T, Saito H
Blood. 1997 ; 90 (11) : 4271-4277.
PMID 9373237
 
Acute myeloblastic leukemia (M2) with translocation (7;11) followed by marked eosinophilia and additional abnormalities of chromosome 5.
Abe A, Tanimoto M, Towatari M, Matsuoka A, Kitaori K, Kato H, Toyozumi H, Takeo T, Adachi K, Emi N
Cancer genetics and cytogenetics. 1995 ; 83 (1) : 37-41.
PMID 7656202
 

Citation

This paper should be referenced as such :
Huret, JL
t(5;14)(q33;q32) PDGFRB/TRIP11
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):59-59.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0514ANLID1118.html


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

Genes TRIP11 PDGFRB

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;14)(q33;q32) PDGFRB/TRIP11

External links

Mitelman databaset(5;14)(q33;q32) [Case List]    t(5;14)(q33;q32) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9966/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(5;14)(q33;q32) PDGFRB/TRIP11
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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