Source:http://linkedlifedata.com/resource/pubmed/id/18519816
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2008-7-24
|
| pubmed:abstractText |
Among 994 patients with essential thrombocythemia (ET) who were genotyped for the MPLW515L/K mutation, 30 patients carrying the mutation were identified (3.0%), 8 of whom also displayed the JAK2V671F mutation. MPLW515L/K patients presented lower hemoglobin levels and higher platelet counts than did wild type (wt) MPL; these differences were highly significant compared with MPLwt/JAK2V617F-positive patients. Reduced hemoglobin and increased platelet levels were preferentially associated with the W515L and W515K alleles, respectively. MPL mutation was a significant risk factor for microvessel disturbances, suggesting platelet hyperreactivity associated with constitutively active MPL; arterial thromboses were increased only in comparison to MPLwt/JAK2wt patients. MPLW515L/K patients presented reduced total and erythroid bone marrow cellularity, whereas the numbers of megakaryocytes, megakaryocytic clusters, and small-sized megakaryocytes were all significantly increased. These data indicate that MPLW515L/K mutations do not define a distinct phenotype in ET, although some differences depended on the JAK2V617F mutational status of the counterpart.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
1528-0020
|
| pubmed:author |
pubmed-author:AlteriniRenatoR,
pubmed-author:AmmatunaEmanueleE,
pubmed-author:AntonioliElisabettaE,
pubmed-author:BarbuiTizianoT,
pubmed-author:BarosiGiovanniG,
pubmed-author:BosiAlbertoA,
pubmed-author:CapaccioliGloriaG,
pubmed-author:CarraiValentinaV,
pubmed-author:DelainiFedericaF,
pubmed-author:Di LolloSimonettaS,
pubmed-author:FinottoSilviaS,
pubmed-author:GueriniVittoriaV,
pubmed-author:GuglielmelliPaolaP,
pubmed-author:LisoVincenzoV,
pubmed-author:Lo-CocoFrancescoF,
pubmed-author:PancrazziAlessandroA,
pubmed-author:RambaldiAlessandroA,
pubmed-author:RuggeriMarcoM,
pubmed-author:SpecchiaGiorginaG,
pubmed-author:VannucchiAlessandro MAM,
pubmed-author:VillaniLauraL
|
| pubmed:issnType |
Electronic
|
| pubmed:day |
1
|
| pubmed:volume |
112
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
844-7
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:18519816-Adult,
pubmed-meshheading:18519816-Aged,
pubmed-meshheading:18519816-Aged, 80 and over,
pubmed-meshheading:18519816-Female,
pubmed-meshheading:18519816-Genotype,
pubmed-meshheading:18519816-Hemoglobins,
pubmed-meshheading:18519816-Humans,
pubmed-meshheading:18519816-Janus Kinase 2,
pubmed-meshheading:18519816-Male,
pubmed-meshheading:18519816-Middle Aged,
pubmed-meshheading:18519816-Mutation,
pubmed-meshheading:18519816-Phenotype,
pubmed-meshheading:18519816-Platelet Activation,
pubmed-meshheading:18519816-Platelet Count,
pubmed-meshheading:18519816-Receptors, Thrombopoietin,
pubmed-meshheading:18519816-Thrombocythemia, Essential,
pubmed-meshheading:18519816-Thrombosis
|
| pubmed:year |
2008
|
| pubmed:articleTitle |
Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia.
|
| pubmed:affiliation |
Unita Funzionale di Ematologia, Dipartimento di Area Critica Medico-Chirurgica, Università degli Studi, Florence, Italy. amvannucchi@unifi.it
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|