Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms

Daniela Pietra, Angela Brisci, Elisa Rumi, Sabrina Boggi, Chiara Elena, Alessandro Pietrelli, Roberta Bordoni, Maurizio Ferrari, Francesco Passamonti, Gianluca de Bellis, Laura Cremonesi, Mario Cazzola

Research output: Contribution to journalArticlepeer-review

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 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.

Original languageEnglish
Pages (from-to)607-611
Number of pages5
JournalHaematologica
Volume96
Issue number4
DOIs
Publication statusPublished - Apr 2011

Keywords

  • Deep sequencing
  • MPL exon 10
  • Mutation
  • Myeloproliferative neoplasm

ASJC Scopus subject areas

  • Hematology

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