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

Written2006-02Jean-Loup Huret
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)

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1326

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 NamePDGFRB (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
Gene NameTP53BP1 (tumor protein p53 binding protein 1)
Location 15q15.3
Protein Component of the cellular response to DNA damage

Result of the chromosomal anomaly

Hybrid gene
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
  
Fusion Protein
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.
  

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

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, Quéméneur E, Guérois 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, Kühr T, Baxter EJ, Webersinke G, Thaler J, Chase AJ, Cross NC
Cancer research. 2004 ; 64 (20) : 7216-7219.
PMID 15492236
 
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
 
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
 

Citation

This paper should be referenced as such :
Huret, JL
t(5;15)(q33;q22)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):189-189.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0515q33q22ID1326.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes PDGFRB

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;15)(q33;q22) TP53BP1/PDGFRB

External links

TP53BP1 (15q15.3) PDGFRB (5q32)

TP53BP1 (15q15.3) PDGFRB (5q32)

Mitelman databaset(5;15)(q33;q22) [Case List]    t(5;15)(q33;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9966/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseTP53BP1/PDGFRB [MCList]  TP53BP1 (15q15.3) PDGFRB (5q32)
TICdbTP53BP1/PDGFRB  TP53BP1 (15q15.3) PDGFRB (5q32)
 
Disease databaset(5;15)(q33;q22) TP53BP1/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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