Epigenetic alteration of SOCS family members is a possible pathogenetic mechanism in JAK2 wild type myeloproliferative diseases

Int J Cancer. 2008 Oct 1;123(7):1586-92. doi: 10.1002/ijc.23694.

Abstract

In polycythemia vera (PV) and essential thrombocythemia (ET) specific JAK2 mutations constitutively activate the JAK-STAT pathway, explaining biologic findings such as endogenous erythroid colony (EECs) growth or PRV-1 RNA overexpression. Since these markers are detected also in JAK2 wild type patients, we hypothesized that, in these cases, the activation of the JAK-STAT pathway could be produced by a deregulation of the suppressor of cytokine signaling (SOCS) protein system. Eighty-one patients with PV and ET (53 adults and 28 children) were investigated for the methylation status of the SOCS-1, SOCS-2 and SOCS-3 CpG islands and for several myeloproliferative markers (including JAK2 and MPL mutations and clonality of hematopoiesis). SOCS-1 or SOCS-3 hypermethylation was identified in 23 patients and was associated with a significant decrease of SOCS-1 or SOCS-3 RNA and protein levels. The gene expression was restored by exposing cells to the demethylating agent 2-deoxyazacytidin. Interestingly, SOCS-1 or SOCS-3 hypermethylation was detected in 6 female patients, proved negative for JAK2 or MPL mutations and exhibiting monoclonal hematopoiesis. In conclusion, SOCS-1 or SOCS-3 hypermethylation can activate the JAK-STAT signaling pathway in alternative or together with JAK2 mutations. These alterations might represent a potential therapeutic target.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Blotting, Western
  • CpG Islands
  • DNA Methylation
  • DNA Primers
  • Epigenesis, Genetic*
  • Female
  • Humans
  • Immunohistochemistry
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Polycythemia Vera / enzymology
  • Polycythemia Vera / genetics*
  • Polycythemia Vera / pathology
  • Reverse Transcriptase Polymerase Chain Reaction
  • Suppressor of Cytokine Signaling Proteins / genetics*
  • Thrombocythemia, Essential / enzymology
  • Thrombocythemia, Essential / genetics*
  • Thrombocythemia, Essential / pathology

Substances

  • DNA Primers
  • Suppressor of Cytokine Signaling Proteins
  • JAK2 protein, human
  • Janus Kinase 2