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rdf:type |
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lifeskim:mentions |
umls-concept:C0034897,
umls-concept:C0085669,
umls-concept:C0205191,
umls-concept:C1334291,
umls-concept:C1413246,
umls-concept:C1417049,
umls-concept:C1418374,
umls-concept:C1538631,
umls-concept:C1704258,
umls-concept:C1708111,
umls-concept:C1825005,
umls-concept:C1826471,
umls-concept:C1837441
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pubmed:issue |
7
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pubmed:dateCreated |
2005-4-4
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pubmed:abstractText |
We have identified a t(8;9)(p21-23;p23-24) in seven male patients (mean age 50, range 32-74) with diverse hematologic malignancies and clinical outcomes: atypical chronic myeloid leukemia/chronic eosinophilic leukemia (n = 5), secondary acute myeloid leukemia (n = 1), and pre-B-cell acute lymphoblastic leukemia (n = 1). Initial fluorescence in situ hybridization studies of one patient indicated that the nonreceptor tyrosine kinase Janus-activated kinase 2 (JAK2) at 9p24 was disrupted. Rapid amplification of cDNA ends-PCR identified the 8p22 partner gene as human autoantigen pericentriolar material (PCM1), a gene encoding a large centrosomal protein with multiple coiled-coil domains. Reverse transcription-PCR and fluorescence in situ hybridization confirmed the fusion in this case and also identified PCM1-JAK2 in the six other t(8;9) patients. The breakpoints were variable in both genes, but in all cases the chimeric mRNA is predicted to encode a protein that retains several of the predicted coiled-coil domains from PCM1 and the entire tyrosine kinase domain of JAK2. Reciprocal JAK2-PCM1 mRNA was not detected in any patient. We conclude that human autoantigen pericentriolar material (PCM1)-JAK2 is a novel, recurrent fusion gene in hematologic malignancies. Patients with PCM1-JAK2 disease are attractive candidates for targeted signal transduction therapy.
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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/Autoantigens,
http://linkedlifedata.com/resource/pubmed/chemical/Cell Cycle Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/JAK2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Janus Kinase 2,
http://linkedlifedata.com/resource/pubmed/chemical/Oncogene Proteins, Fusion,
http://linkedlifedata.com/resource/pubmed/chemical/PCM1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Protein-Tyrosine Kinases,
http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0008-5472
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pubmed:author |
pubmed-author:AruliahShilaniS,
pubmed-author:BarkerHelen FHF,
pubmed-author:BenedettiFabioF,
pubmed-author:BergerUteU,
pubmed-author:BlauIlonaI,
pubmed-author:ChaseAndrewA,
pubmed-author:CrossNicholas C PNC,
pubmed-author:HehlmannRüdigerR,
pubmed-author:HochhausAndreasA,
pubmed-author:KolbHans-JochemHJ,
pubmed-author:O'DriscollAislingA,
pubmed-author:ReiterAndreasA,
pubmed-author:RudolphCorneliaC,
pubmed-author:SchlegelbergerBrigitteB,
pubmed-author:SchochClaudiaC,
pubmed-author:TaylorPeter CPC,
pubmed-author:TelfordNickN,
pubmed-author:VanstraelenDannyD,
pubmed-author:WalzChristophC,
pubmed-author:WatmoreAnnA,
pubmed-author:YinJohn AJA
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
65
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2662-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15805263-Acute Disease,
pubmed-meshheading:15805263-Adult,
pubmed-meshheading:15805263-Aged,
pubmed-meshheading:15805263-Amino Acid Sequence,
pubmed-meshheading:15805263-Autoantigens,
pubmed-meshheading:15805263-Base Sequence,
pubmed-meshheading:15805263-Cell Cycle Proteins,
pubmed-meshheading:15805263-Chromosomes, Human, Pair 8,
pubmed-meshheading:15805263-Chromosomes, Human, Pair 9,
pubmed-meshheading:15805263-Humans,
pubmed-meshheading:15805263-Janus Kinase 2,
pubmed-meshheading:15805263-Leukemia, Myelogenous, Chronic, BCR-ABL Positive,
pubmed-meshheading:15805263-Leukemia, Myeloid,
pubmed-meshheading:15805263-Male,
pubmed-meshheading:15805263-Middle Aged,
pubmed-meshheading:15805263-Molecular Sequence Data,
pubmed-meshheading:15805263-Oncogene Proteins, Fusion,
pubmed-meshheading:15805263-Protein-Tyrosine Kinases,
pubmed-meshheading:15805263-Proto-Oncogene Proteins,
pubmed-meshheading:15805263-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:15805263-Translocation, Genetic
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pubmed:year |
2005
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pubmed:articleTitle |
The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2.
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pubmed:affiliation |
III. Medizinische Universitätsklinik, Fakultät für Klinische Medizin Mannheim der Universität Heidelberg, Mannheim, Germany. andreas.reiter@med3.ma.uni-heidelberg.de
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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