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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)


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.


Additional anomalies Sole anomaly in each case.

Genes involved and Proteins

Gene Name PDE4DIP
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 Name PDGFRB
Location 5q33
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.


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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):257-258.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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


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)
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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