Source:http://linkedlifedata.com/resource/pubmed/id/16772604
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
7
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pubmed:dateCreated |
2006-9-21
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pubmed:abstractText |
An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET). In a proportion of V617F-positive patients, mitotic recombination produces mutation-homozygous cells that come to predominate with time. However, the prevalence of homozygosity is unclear, as previous reports studied mixed populations of wild-type, V617F-heterozygous, and V617F-homozygous mutant cells. We therefore analyzed 1766 individual hematopoietic colonies from 34 patients with PV or ET in whom granulocyte sequencing demonstrated that the mutant peak did not predominate. V617F-positive erythroid burst-forming units (BFU-Es) were more frequent in patients with PV compared with patients with ET (P = .022) and, strikingly, V617F-homozygous BFU-Es were detected in all 17 patients with PV, but in none of the patients with ET (P < .001). Moreover, mutation-homozygous cells were present in 2 patients with ET after polycythemic transformation. These results demonstrate that V617F-homozygous erythroid progenitors are present in most patients with PV but occur rarely in those with ET.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0006-4971
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
108
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
2435-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16772604-Base Sequence,
pubmed-meshheading:16772604-DNA Mutational Analysis,
pubmed-meshheading:16772604-Disease Progression,
pubmed-meshheading:16772604-Erythroid Precursor Cells,
pubmed-meshheading:16772604-Granulocytes,
pubmed-meshheading:16772604-Heterozygote,
pubmed-meshheading:16772604-Homozygote,
pubmed-meshheading:16772604-Humans,
pubmed-meshheading:16772604-Janus Kinase 2,
pubmed-meshheading:16772604-Molecular Sequence Data,
pubmed-meshheading:16772604-Point Mutation,
pubmed-meshheading:16772604-Polycythemia Vera,
pubmed-meshheading:16772604-Protein-Tyrosine Kinases,
pubmed-meshheading:16772604-Proto-Oncogene Proteins,
pubmed-meshheading:16772604-Stem Cells,
pubmed-meshheading:16772604-Thrombocythemia, Essential
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pubmed:year |
2006
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pubmed:articleTitle |
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia.
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pubmed:affiliation |
Department of Haematology, Cambridge Institute for Medical Research, Hills Road, Cambridge CB2 2XY, United Kingdom. lms52@cam.ac.uk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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