t(1;5)(q22;q33)

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 Name	PDE4DIP (phosphodiesterase 4D interacting protein).
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.

External links

Other database	t(1;5)(q22;q33)	Mitelman database (CGAP - NCBI)
Other database	t(1;5)(q22;q33)	CancerChromosomes (NCBI)

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

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

t(1;5)(q23;q33) in a patient with high-risk B-lineage acute lymphoblastic leukemia.

Barriga F, Bertin P, Legˆºes E, Risueˆ±o C, Andrade W, Cabrera E, Grebe G

Cancer genetics and cytogenetics. 1996 ; 87 (1) : 4-6.

PMID 8646739

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

Contributor(s)

Written	04-2006	Jean Loup Huret

Citation

This paper should be referenced as such :

Huret JL . t(1;5)(q22;q33). Atlas Genet Cytogenet Oncol Haematol. April 2006 . URL : http://AtlasGeneticsOncology.org/Genes/t0105q22q33ID1115.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:19:37 2008

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