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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
20
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pubmed:dateCreated |
2004-10-19
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pubmed:abstractText |
We describe the fusion of TP53BP1 to PDGFRB in a patient with a chronic myeloid leukemia-like disorder associated with eosinophilia and a t(5;15)(q33;q22). TP53BP1 encodes 53BP1, a p53-binding protein that plays a role in cellular responses to DNA damage. The 53BP1-PDGFRbeta fusion protein is predicted to retain the kinetochore-binding domain of 53BP1 fused to the transmembrane and intracellular tyrosine kinase domain of PDGFRbeta. The presence of the fusion was confirmed by two-color fluorescence in situ hybridization, reverse transcription-PCR, and by characterizing the genomic breakpoints. The reciprocal fusion, which would contain the p53-binding 53BP1 BRCA1 COOH-terminal domains, was not detectable by fluorescence in situ hybridization or nested PCR. Imatinib, a known inhibitor of PDGFRbeta, blocked the growth of patient colony-forming unit, granulocyte-macrophage in vitro and produced a clinically significant response before relapse and subsequent death with imatinib-resistant disease. We conclude that TP53BP1-PDGFRB is a novel imatinib target in atypical chronic myeloid leukemia.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Antineoplastic Agents,
http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides...,
http://linkedlifedata.com/resource/pubmed/chemical/Oncogene Proteins, Fusion,
http://linkedlifedata.com/resource/pubmed/chemical/Phosphoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Piperazines,
http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins c-sis,
http://linkedlifedata.com/resource/pubmed/chemical/Pyrimidines,
http://linkedlifedata.com/resource/pubmed/chemical/TP53BP1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/imatinib
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0008-5472
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
7216-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15492236-Aged,
pubmed-meshheading:15492236-Amino Acid Sequence,
pubmed-meshheading:15492236-Antineoplastic Agents,
pubmed-meshheading:15492236-Base Sequence,
pubmed-meshheading:15492236-Chromosomes, Human, Pair 15,
pubmed-meshheading:15492236-Chromosomes, Human, Pair 5,
pubmed-meshheading:15492236-Eosinophilia,
pubmed-meshheading:15492236-Humans,
pubmed-meshheading:15492236-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:15492236-Male,
pubmed-meshheading:15492236-Molecular Sequence Data,
pubmed-meshheading:15492236-Myeloproliferative Disorders,
pubmed-meshheading:15492236-Oncogene Proteins, Fusion,
pubmed-meshheading:15492236-Phosphoproteins,
pubmed-meshheading:15492236-Piperazines,
pubmed-meshheading:15492236-Proto-Oncogene Proteins c-sis,
pubmed-meshheading:15492236-Pyrimidines,
pubmed-meshheading:15492236-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:15492236-Translocation, Genetic
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pubmed:year |
2004
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pubmed:articleTitle |
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.
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pubmed:affiliation |
Wessex Regional Genetics Laboratory, Salisbury and Human Genetics Division, University of Southampton, Southampton, United Kingdom.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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