Aberrant let7a/HMGA2 signaling activity with unique clinical phenotype in JAK2-mutated myeloproliferative neoplasms

Haematologica. 2017 Mar;102(3):509-518. doi: 10.3324/haematol.2016.154385. Epub 2017 Jan 5.

Abstract

High mobility group AT-hook 2 (HMGA2) is an architectural transcription factor that is negatively regulated by let-7 microRNA through binding to it's 3'-untranslated region. Transgenic mice expressing Hmga2 with a truncation of its 3'-untranslated region has been shown to exhibit a myeloproliferative phenotype. To decipher the let-7-HMGA2 axis in myeloproliferative neoplasms, we employed an in vitro model supplemented with clinical correlation. Ba/F3 cells with inducible JAK2V617F expression (Ton.JAK2.V617F cells) showed upregulation of HMGA2 with concurrent let-7a repression. Ton.JAK2.V617F cells treated with a let-7a inhibitor exhibited further escalation of Hmga2 expression, while a let-7a mimic diminished the Hmga2 transcript level. Hmga2 overexpression conferred JAK2-mutated cells with a survival advantage through inhibited apoptosis. A pan-JAK inhibitor, INC424, increased the expression of let-7a, downregulated the level of Hmga2, and led to increased apoptosis in Ton.JAK2.V617F cells in a dose-dependent manner. In samples from 151 patients with myeloproliferative neoplasms, there was a modest inverse correlation between the expression levels of let-7a and HMGA2 Overexpression of HMGA2 was detected in 29 (19.2%) of the cases, and it was more commonly seen in patients with essential thrombocythemia than in those with polycythemia vera (26.9% vs 12.7%, P=0.044). Patients with upregulated HMGA2 showed an increased propensity for developing major thrombotic events, and they were more likely to harbor one of the 3 driver myeloproliferative neoplasm mutations in JAK2, MPL and CALR Our findings suggest that, in a subset of myeloproliferative neoplasm patients, the let-7-HMGA2 axis plays a prominent role in the pathogenesis of the disease that leads to unique clinical phenotypes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Apoptosis / genetics
  • Biomarkers
  • Cell Line, Tumor
  • Cell Survival / genetics
  • Chromosomes, Human, Pair 12
  • Female
  • Gene Expression Regulation / drug effects
  • Gene Silencing
  • Genetic Association Studies
  • HMGA2 Protein / genetics*
  • HMGA2 Protein / metabolism*
  • Humans
  • Hydroxyurea / pharmacology
  • Hydroxyurea / therapeutic use
  • Janus Kinase 2 / genetics*
  • Janus Kinase 2 / metabolism
  • Male
  • MicroRNAs / genetics*
  • Middle Aged
  • Mutation*
  • Myeloproliferative Disorders / diagnosis
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / metabolism*
  • Myeloproliferative Disorders / mortality
  • Phenotype*
  • Prognosis
  • Protein Kinase Inhibitors / pharmacology
  • Protein Kinase Inhibitors / therapeutic use
  • RNA Interference
  • STAT Transcription Factors / metabolism
  • Signal Transduction*
  • Translocation, Genetic

Substances

  • Biomarkers
  • HMGA2 Protein
  • MicroRNAs
  • Protein Kinase Inhibitors
  • STAT Transcription Factors
  • mirnlet7 microRNA, human
  • Janus Kinase 2
  • Hydroxyurea