Non-driver mutations in myeloproliferative neoplasm-associated myelofibrosis

J Hematol Oncol. 2017 May 2;10(1):99. doi: 10.1186/s13045-017-0472-5.

Abstract

We studied non-driver mutations in 62 subjects with myeloproliferative neoplasm (MPN)-associated myelofibrosis upon diagnosis, including 45 subjects with primary myelofibrosis (PMF) and 17 with post-polycythemia vera or post-essential thrombocythemia myelofibrosis (post-PV/ET MF). Fifty-eight subjects had ≥1 non-driver mutation upon diagnosis. Mutations in mRNA splicing genes, especially in U2AF1, were significantly more frequent in PMF than in post-PV/ET MF (33 vs. 6%; P = 0.015). There were also striking differences in clonal architecture. These data indicate different genomic spectrums between PMF and post-PV/ET MF.

Keywords: Myeloproliferative neoplasm-associated myelofibrosis; Non-driver mutation; Targeted gene sequencing.

Publication types

  • Comparative Study
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Apoptosis / genetics
  • Cell Adhesion / genetics
  • Cell Cycle / genetics
  • Chromatin Assembly and Disassembly / genetics
  • Clone Cells
  • DNA Methylation / genetics
  • DNA Repair / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Polycythemia Vera / complications
  • Polycythemia Vera / genetics*
  • Primary Myelofibrosis / etiology
  • Primary Myelofibrosis / genetics*
  • RNA Splicing / genetics
  • Signal Transduction / genetics
  • Splicing Factor U2AF / genetics
  • Thrombocythemia, Essential / complications
  • Thrombocythemia, Essential / genetics
  • Young Adult

Substances

  • Splicing Factor U2AF
  • U2AF1 protein, human