t(5;15)(q33;q22) TP53BP1/PDGFRB

2006-02-01   Jean-Loup Huret 

1.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


Atypical chronic myelogenous leukemia (a-CML) (BCR-ABL negative chronic myeloproliferative disease)


Only one case to date, a 79 yr old male patient


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)
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)
Protein description
Component of the cellular response to DNA damage

Result of the Chromosomal Anomaly


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.


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.


Pubmed IDLast YearTitleAuthors
153417212004The Tudor tandem of 53BP1: a new structural motif involved in DNA and RG-rich peptide binding.Charier G et al
154922362004p53-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
113313102001Tumor suppressor p53 binding protein 1 (53BP1) is involved in DNA damage-signaling pathways.Rappold I et al
16260621200553BP1 cooperates with p53 and functions as a haploinsufficient tumor suppressor in mice.Ward IM et al
160241192005ATM signaling and 53BP1.Zgheib O et al


Fusion gene

TP53BP1/PDGFRB TP53BP1 (15q15.3) PDGFRB (5q32) M t(5;15)(q32;q15)|TP53BP1/PDGFRB TP53BP1 (15q15.3) PDGFRB (5q32) TIC


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;15)(q33;q22)

External Links