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t(1;5)(q22;q33) PDE4DIP/PDGFRB

Written2006-04Jean-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 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1115

Clinics and Pathology

Disease Myeloproliferative disorders (MPD) with eosinophilia (or chronic eosinophilic leukemia (CEL)) and B-cell acute lymphoblastic leukaemia (ALL)
Epidemiology 4 cases of MPD with eosinophilia, and 1 case of ALL; because the phenotypes are different, it may be that genes involved in this/these disease(s) are not similar; PDE4DIP and PDFRGB were found involved in MPD with eosinophilia (see below).
Clinics MPD cases were found in 3 infants (aged 5, 7, and 11 mths), and one young adult, aged 21 yrs; sex ratio was 1/1. The ALL case was a 13 yr old boy.
Prognosis One MPD case died 9 mths after diagnosis, another one was alive at 14 mths+, one was alive and well 7 yrs after diagnosis with IFN therapy, and one was found resistant to various treatments, including IFN therapy, until -because PDGFRB was found to be involved in the disease- imatinib was started and remission obtained. The ALL case experienced difficult remission, relapse, BM transplantation, CNS relapse; the parents finally refused further therapy and the patient died.

Cytogenetics

Additional anomalies Sole anomaly in each case.

Genes involved and Proteins

Gene NamePDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))
Location 1q21.1
Note 1q22
Protein PDE4DIP codes for a protein called myomegalin; interacts with the cyclic nucleotide phosphodiesterase PDE4D; there ar at least 2 isoforms of myomegalin: KIAA0454 isoform and KIAA0477 isoform
Gene NamePDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location 5q32
Protein PDGFRB is the receptor for PDGFB (platelet-derived growth factor-b); Ig like, transmembrane and tyrosine kinase domains; membrane tyrosine kinase; can homodimerize

Result of the chromosomal anomaly

Hybrid gene
Description 5' PDE4DIP - 3' PDGFRB; PDE4DIP (KIAA0477 isoform) fuses in frame PDGFRB exon 11
Transcript The reciprocal PDGFRB-PDE4DIP is not expressed
  
Fusion Protein
Description The first 905 amino acids of PDE4DIP, including the coiled-coil domains are fused to the transmembrane and the tyrosine kinase domains of PDGFRB.
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

t(1;5)(q23;q33) in a patient with high-risk B-lineage acute lymphoblastic leukemia.
Barriga F, Bertin P, Legües E, Risueño C, Andrade W, Cabrera E, Grebe G
Cancer genetics and cytogenetics. 1996 ; 87 (1) : 4-6.
PMID 8646739
 
A myeloproliferative disease in two infants associated with eosinophilia and chromosome t(1;5) translocation.
Darbyshire PJ, Shortland D, Swansbury GJ, Sadler J, Lawler SD, Chessells JM
British journal of haematology. 1987 ; 66 (4) : 483-486.
PMID 3663504
 
AlphaIFN-induced hematologic and cytogenetic remission in chronic eosinophilic leukemia with t(1;5).
Luciano L, Catalano L, Sarrantonio C, Guerriero A, Califano C, Rotoli B
Haematologica. 1999 ; 84 (7) : 651-653.
PMID 10406909
 
Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase.
Verde I, Pahlke G, Salanova M, Zhang G, Wang S, Coletti D, Onuffer J, Jin SL, Conti M
The Journal of biological chemistry. 2001 ; 276 (14) : 11189-11198.
PMID 11134006
 
Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.
Wilkinson K, Velloso ER, Lopes LF, Lee C, Aster JC, Shipp MA, Aguiar RC
Blood. 2003 ; 102 (12) : 4187-4190.
PMID 12907457
 

Citation

This paper should be referenced as such :
Huret, JL
t(1;5)(q22;q33)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):257-258.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0105q22q33ID1115.html


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

Genes PDE4DIP PDGFRB

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;5)(q22;q33) PDE4DIP/PDGFRB

External links

PDE4DIP (1q21.1) PDGFRB (5q32)

PDE4DIP (1q21.1) PDGFRB (5q32)

Mitelman databaset(1;5)(q22;q33) [Case List]    t(1;5)(q22;q33) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databasePDE4DIP/PDGFRB [MCList]  PDE4DIP (1q21.1) PDGFRB (5q32)
TICdbPDE4DIP/PDGFRB  PDE4DIP (1q21.1) PDGFRB (5q32)
 
Disease databaset(1;5)(q22;q33) PDE4DIP/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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