Source:http://linkedlifedata.com/resource/pubmed/id/17285276
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2007-3-21
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pubmed:abstractText |
Detection of genetic markers improves diagnostic refinement of chronic myeloproliferative disorders (CMDs) and is helpful in discriminating reactive conditions mimicking CMDs such as reactive erythrocytosis and thrombocytosis. We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. The test was used in the diagnostic work-up of 50 patients with elevation of >or=2 myeloid cell types in their blood count at presentation and in 42 patients with isolated, non-reactive thrombocytosis. This approach refined diagnosis in 44 of 50 cases in the first series and in 22 of 42 cases with isolated thrombocytosis. We conclude that this non-isotopic and rapid assay amenable to automation may be adopted in routine genetic diagnosis of CMDs as well as for initial screening of thrombocytosis of unknown nature.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0939-5555
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
86
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
355-61
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17285276-DNA Mutational Analysis,
pubmed-meshheading:17285276-Electrophoresis, Capillary,
pubmed-meshheading:17285276-Fusion Proteins, bcr-abl,
pubmed-meshheading:17285276-Genes, abl,
pubmed-meshheading:17285276-Humans,
pubmed-meshheading:17285276-In Situ Hybridization, Fluorescence,
pubmed-meshheading:17285276-Janus Kinase 2,
pubmed-meshheading:17285276-Myeloproliferative Disorders,
pubmed-meshheading:17285276-Polymerase Chain Reaction
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pubmed:year |
2007
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pubmed:articleTitle |
Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation.
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pubmed:affiliation |
Dipartimento di Biopatologia e Diagnostica per Immagini, University Tor Vergata via Montpellier, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Evaluation Studies
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