t(5;15)(q33;q22) TP53BP1/PDGFRB
2006-02-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH); Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, PR China (YX)
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 (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
Protein description
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 (tumor protein p53 binding protein 1)
Location
15q15.3
Protein description
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 detectable247 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.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 15492236 | 2004 | 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. | 0 |
| 22169300 | 2011 | [Application of reverse transcription-multiplex nested PCR to detect PDGFRB gene rearrangement in myeloproliferative disorders]. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15341721 | 2004 | The Tudor tandem of 53BP1: a new structural motif involved in DNA and RG-rich peptide binding. | Charier G et al |
| 15492236 | 2004 | 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 et al |
| 11331310 | 2001 | Tumor suppressor p53 binding protein 1 (53BP1) is involved in DNA damage-signaling pathways. | Rappold I et al |
| 16260621 | 2005 | 53BP1 cooperates with p53 and functions as a haploinsufficient tumor suppressor in mice. | Ward IM et al |
| 16024119 | 2005 | ATM signaling and 53BP1. | Zgheib O et al |
Summary
Fusion gene
TP53BP1/PDGFRB TP53BP1 (15q15.3) PDGFRB (5q32) M t(5;15)(q32;q15)|TP53BP1/PDGFRB TP53BP1 (15q15.3) PDGFRB (5q32) TIC
Citation
Jean-Loup Huret
t(5;15)(q33;q22) TP53BP1/PDGFRB
Atlas Genet Cytogenet Oncol Haematol. 2006-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1326/t(5
