| Clinics and Pathology |
| Disease | Atypical chronic myelogenous leukemia (a-CML) (BCR-ABL negative chronic myeloproliferative disease) |
| Epidemiology | Only one case to date, a 79 yr old male patient |
| Prognosis | The disease was sensitive to imatinib, but the patient developped resistance to imatinib and died 14 mths after diagnosis |
| Genes involved and Proteins |
| 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 |
| Gene Name | TP53BP1 |
| Location | 15q22 |
| Protein | Component of the cellular response to DNA damage |
| Result of the chromosomal anomaly |
| Description | 5' TP53BP1-3' PDGFRB; breakpoint in PDGFRB intron 10, identical to most PDGFRB breakpoints; exon 23 of TP53BP1 fused in frame to PDGFRB exon 11; reciprocal product not detectable |
| Description | 247 kDa; composed of the N-term TP53BP1 including the coiled coil domains and the kinetochore binding domain from TP53BP1 fused to the transmembrane and the tyrosine kinase domains of PDGFRB C-term. |
| Oncogenesis | The coiled coil domains from TP53BP1 may mediate PDGFRB homodimerization and constitutive activation of its tyrosine kinase activity; on the other hand, the DNA damage response of TP53BP1 may be perturbed. |
| External links |
| Other database | t(5;15)(q33;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;15)(q33;q22) | 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 |
| Tumor suppressor p53 binding protein 1 (53BP1) is involved in DNA damage-signaling pathways. |
| Rappold I, Iwabuchi K, Date T, Chen J |
| The Journal of cell biology. 2001 ; 153 (3) : 613-620. |
| PMID 11331310 |
| The Tudor tandem of 53BP1: a new structural motif involved in DNA and RG-rich peptide binding. |
| Charier G, Couprie J, Alpha-Bazin B, Meyer V, Quˆ©mˆ©neur E, Guˆ©rois R, Callebaut I, Gilquin B, Zinn-Justin S |
| Structure (London, England : 1993). 2004 ; 12 (9) : 1551-1562. |
| PMID 15341721 |
| p53-Binding protein 1 is fused to the platelet-derived growth factor receptor beta in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder. |
| Grand FH, Burgstaller S, Kˆºhr T, Baxter EJ, Webersinke G, Thaler J, Chase AJ, Cross NC |
| Cancer research. 2004 ; 64 (20) : 7216-7219. |
| PMID 15492236 |
| 53BP1 cooperates with p53 and functions as a haploinsufficient tumor suppressor in mice. |
| Ward IM, Difilippantonio S, Minn K, Mueller MD, Molina JR, Yu X, Frisk CS, Ried T, Nussenzweig A, Chen J |
| Molecular and cellular biology. 2005 ; 25 (22) : 10079-10086. |
| PMID 16260621 |
| ATM signaling and 53BP1. |
| Zgheib O, Huyen Y, DiTullio RA Jr, Snyder A, Venere M, Stavridi ES, Halazonetis TD |
| Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology. 2005 ; 76 (2) : 119-122. |
| PMID 16024119 |
| Contributor(s) |
| Written | 02-2006 | JeanLoup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(5;15)(q33;q22). Atlas Genet Cytogenet Oncol Haematol. February 2006 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0515q33q22ID1326.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:26 2008 |
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