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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2011-4-1
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pubmed:abstractText |
Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. We used direct sequencing and high-resolution melt analysis to identify mutations of MPL exon 10 in 570 patients with myeloproliferative neoplasms, and allele specific PCR and deep sequencing to further characterize a subset of mutated patients. Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thrombocythemia or primary myelofibrosis. Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). High-resolution melt analysis identified abnormal patterns in all the MPL mutated cases, while direct sequencing did not detect the mutant MPL in one fifth of them. In 3 cases carrying double MPL mutations, deep sequencing analysis showed identical load and location in cis of the paired lesions, indicating their simultaneous occurrence on the same chromosome.
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pubmed:commentsCorrections |
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1592-8721
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pubmed:author |
pubmed-author:BoggiSabrinaS,
pubmed-author:BordoniRobertaR,
pubmed-author:BrisciAngelaA,
pubmed-author:CazzolaMarioM,
pubmed-author:CremonesiLauraL,
pubmed-author:De BellisGianlucaG,
pubmed-author:ElenaChiaraC,
pubmed-author:FerrariMaurizioM,
pubmed-author:PassamontiFrancescoF,
pubmed-author:PietraDanielaD,
pubmed-author:PietrelliAlessandroA,
pubmed-author:RumiElisaE
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pubmed:issnType |
Electronic
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pubmed:volume |
96
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
607-11
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pubmed:dateRevised |
2011-10-2
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pubmed:meshHeading |
pubmed-meshheading:21228032-Adult,
pubmed-meshheading:21228032-Aged,
pubmed-meshheading:21228032-Aged, 80 and over,
pubmed-meshheading:21228032-Base Sequence,
pubmed-meshheading:21228032-Exons,
pubmed-meshheading:21228032-Female,
pubmed-meshheading:21228032-High-Throughput Nucleotide Sequencing,
pubmed-meshheading:21228032-Humans,
pubmed-meshheading:21228032-Janus Kinase 2,
pubmed-meshheading:21228032-Male,
pubmed-meshheading:21228032-Middle Aged,
pubmed-meshheading:21228032-Mutation,
pubmed-meshheading:21228032-Myeloproliferative Disorders,
pubmed-meshheading:21228032-Receptors, Thrombopoietin,
pubmed-meshheading:21228032-Sequence Analysis, DNA
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pubmed:year |
2011
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pubmed:articleTitle |
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
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pubmed:affiliation |
Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy. d.pietra@smatteo.pv.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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