Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.

@article{Rumi2013AcquiredCL,
  title={Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.},
  author={Elisa Rumi and D Pietra and Paola Guglielmelli and Roberta Bordoni and Ilaria Carola Casetti and Chiara Milanesi and Emanuela Sant'antonio and Virginia Valeria Ferretti and Alessandro Pancrazzi and Giada Rotunno and Marco Severgnini and Alessandro Pietrelli and Cesare Astori and Elena Fugazza and Cristiana Pascutto and Emanuela Boveri and Francesco Passamonti and Gianluca De Bellis and Alessandro Maria Vannucchi and Mario Cazzola},
  journal={Blood},
  year={2013},
  volume={121 21},
  pages={4388-95}
}
We studied mutations of MPL exon 10 in patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), first investigating a cohort of 892 consecutive patients. MPL mutation scanning was performed on granulocyte genomic DNA by using a high-resolution melt assay, and the mutant allele burden was evaluated by using deep sequencing. Somatic mutations of MPL, all but one involving codon W515, were detected in 26/661 (4%) patients with ET, 10/187 (5%) with PMF, and 7/44 (16%) patients… CONTINUE READING
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