Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α-2a. Academic Article uri icon


MeSH Major

  • DNA-Binding Proteins
  • Interferon-alpha
  • Janus Kinase 2
  • Polycythemia Vera
  • Polyethylene Glycols
  • Proto-Oncogene Proteins
  • Thrombocythemia, Essential


  • Pegylated interferon α-2a (PEG-IFN-α-2a) has previously been shown to induce hematologic and molecular responses in patients with polycythemia vera (PV) or essential thrombocythemia (ET). Here we present a follow-up of a phase 2 trial with PEG-IFN-α-2a treatment in 43 PV and 40 ET patients with detailed molecular analysis. After a median follow-up of 42 months, complete hematologic response was achieved in 76% of patients with PV and 77% of those with ET. This was accompanied by complete molecular response (CMR) (ie, undetectable JAK2V617F) in 18% and 17%, of PV and ET patients, respectively. Serial sequencing of TET2, ASXL1, EZH2, DNMT3A, and IDH1/2 revealed that patients failing to achieve CMR had a higher frequency of mutations outside the Janus kinase-signal transducer and activator of transcription pathway and were more likely to acquire new mutations during therapy. Patients with both JAK2V617F and TET2 mutations at therapy onset had a higher JAK2V617F mutant allele burden and a less significant reduction in JAK2V617F allele burden compared with JAK2 mutant/TET2 wild-type patients. These data demonstrate that PEG-IFN-α-2a induces sustained CMR in a subset of PV or ET patients, and that genotypic context may influence clinical and molecular response to PEG-IFN-α-2a.

publication date

  • August 8, 2013



  • Academic Article



  • eng

PubMed Central ID

  • PMC3739035

Digital Object Identifier (DOI)

  • 10.1182/blood-2012-07-442012

PubMed ID

  • 23782935

Additional Document Info

start page

  • 893

end page

  • 901


  • 122


  • 6