Source:http://linkedlifedata.com/resource/pubmed/id/20890078
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2010-10-4
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pubmed:abstractText |
JAK2 V617F and MPL W515L/K mutations have been reported in approximately 50% and 5% of the patients with essential thrombocythemia (ET), respectively. We investigated the frequency of MPL W515L/K mutations in a series of consecutive patients with ET and post-essential thrombocythemia myelofibrosis (post-ET MF). The study subjects were 63 patients diagnosed either with ET (N=59) or post-ET MF (N=4) at our institution between June 2006 and February 2010. Among them, 35 (55.6%) had the JAK2 V617F mutation. MPL W515L/K mutations were detected by direct sequencing analyses of exon 10, and 2 patients were found to harbor the following MPL mutations: W515L in 1 patient with ET and W515K in 1 patient with post-ET MF. Neither of the patients had the JAK2 V617F mutation. Thus, the frequency of MPL W515L/K mutation in Korean patients with ET/post-ETMF was 3.2% (2/63) and that in JAK2 V617F-negative ET/post-ET MF was 7.1% (2/28) [corrected]. This is the first study to report the frequency of JAK2 V617F and MPL W515L/K mutations in Korean patients with ET/post-ET MF.
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pubmed:commentsCorrections | |
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 |
Oct
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pubmed:issn |
1598-6535
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
30
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
474-6
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pubmed:dateRevised |
2011-3-2
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pubmed:meshHeading |
pubmed-meshheading:20890078-Aged,
pubmed-meshheading:20890078-Amino Acid Substitution,
pubmed-meshheading:20890078-Asian Continental Ancestry Group,
pubmed-meshheading:20890078-Exons,
pubmed-meshheading:20890078-Female,
pubmed-meshheading:20890078-Humans,
pubmed-meshheading:20890078-Janus Kinase 2,
pubmed-meshheading:20890078-Male,
pubmed-meshheading:20890078-Middle Aged,
pubmed-meshheading:20890078-Mutation,
pubmed-meshheading:20890078-Polycythemia Vera,
pubmed-meshheading:20890078-Receptors, Thrombopoietin,
pubmed-meshheading:20890078-Republic of Korea,
pubmed-meshheading:20890078-Sequence Analysis, DNA,
pubmed-meshheading:20890078-Thrombocythemia, Essential
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pubmed:year |
2010
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pubmed:articleTitle |
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.
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pubmed:affiliation |
Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. heejinkim@skku.edu
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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