Deep sequencing reveals double mutations in cis of MPL exon 10 in myelloproliferative neoplasm's (Articolo in rivista)

Type
Label
  • Deep sequencing reveals double mutations in cis of MPL exon 10 in myelloproliferative neoplasm's (Articolo in rivista) (literal)
Anno
  • 2011-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.3324/haematol.2010.034793 (literal)
Alternative label
  • Pietra, Daniela; Brisci, Angela; Rumi, Elisa; Boggi, Sabrina; Elena, Chiara; Pietrelli, Alessandro; Bordoni, Roberta; Ferrari, Maurizio; Passamonti, Francesco; De Bellis, Gianluca; Cremonesi, Laura; Cazzola, Mario (2011)
    Deep sequencing reveals double mutations in cis of MPL exon 10 in myelloproliferative neoplasm's
    in Haematologica (Roma)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Pietra, Daniela; Brisci, Angela; Rumi, Elisa; Boggi, Sabrina; Elena, Chiara; Pietrelli, Alessandro; Bordoni, Roberta; Ferrari, Maurizio; Passamonti, Francesco; De Bellis, Gianluca; Cremonesi, Laura; Cazzola, Mario (literal)
Pagina inizio
  • 607 (literal)
Pagina fine
  • 611 (literal)
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  • 96 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 5 (literal)
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  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Fdn IRCCS Policlin San Matteo; University of Pavia; Vita-Salute San Raffaele University; Consiglio Nazionale delle Ricerche (CNR); Univ Vita Salute San Raffaele; Diagnost & Ric San Raffaele SpA (literal)
Titolo
  • Deep sequencing reveals double mutations in cis of MPL exon 10 in myelloproliferative neoplasm's (literal)
Abstract
  • 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 nigh-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 charactelize 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. (literal)
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