| Written | 2006-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 Name | PDE4DIP (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 Name | PDGFRB (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 |
| Description | 5' PDE4DIP - 3' PDGFRB; PDE4DIP (KIAA0477 isoform) fuses in frame PDGFRB exon 11 |
| Transcript | The reciprocal PDGFRB-PDE4DIP is not expressed |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Sep 26 12:35:27 CEST 2017 |
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