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Epigenomic profiling in polycythaemia vera and essential thrombocythaemia shows low levels of aberrant DNA methylation
  1. S Barrio1,
  2. M Gallardo1,
  3. E Albizua1,2,
  4. A Jimenez1,
  5. I Rapado1,
  6. R Ayala1,3,
  7. F Gilsanz1,3,
  8. J I Martin-Subero4,
  9. J Martinez-Lopez1,3
  1. 1Servicio de Hematología, Hospital Universitario 12 de Octubre, Avenida Córdoba s/n, Madrid, Spain
  2. 2Servicio de Hematologia, Hospital Virgen de la Salud, Toledo, Spain
  3. 3Universidad Complutense, Madrid, Spain
  4. 4Department of Anatomic Pathology, University of Barcelona, Barcelona, Spain
  1. Correspondence to J Martinez-Lopez, Servicio de Hematología, Hospital Universitario 12 de Octubre, Avenida Córdoba s/n, Madrid 28041, Spain; jmartinezlo{at}


Aims The purpose of this study was to compare the DNA-methylation signature in classic chronic Philadelphia negative myeloproliferative neoplasms (MPN), polycythaemia vera (PV) and essential thrombocythaemia (ET), in order to obtain a global insight into DNA-methylation changes associated with these malignancies.

Methods Thirty-five MPN samples from 11 ET JAK2 V617F, 12 ET JAK2 wild type (WT) and 12 PV JAK2 V617F patients as well as 12 from healthy donors were analysed. DNA samples extracted from whole peripheral blood were hybridised to the ‘HumanMethylation27 DNA Analysis BeadChip.’

Results All groups showed a very homogeneous methylation pattern. Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and controls. This aberrant methylation was correlated with a differential gene expression of ZNF577. No aberrant hypermethylation was found in the SOCS-1 and SOCS-3 genes.

Conclusions According to our results, an aberrant methylation pattern does not seem to play a crucial role in MPN pathogenesis; nor does it justify phenotypical differences between PV and ET.

  • Polycythaemia vera
  • essential thrombocythaemia
  • epigenomic
  • methylation
  • SOCS family genes
  • ZNF577
  • haematology
  • polycythaemia
  • thrombocythaemia
  • cancer
  • myeloproliferative disease
  • cancer research
  • biochemistry
  • haemato-oncology
  • colorectal cancer
  • gall bladder
  • oncogenes
  • p53
  • pancreas
  • leukaemia
  • erythrocyte
  • myeloproliferative disease
  • micro array
  • thrombocythaemia

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  • Funding This work was supported by grants from the Spanish Health Office FIS 05/1665 FIS 08/402, FIS PI030345 and PI071009 from the Spanish Ministry of Health, Beca de Investigación FEHH, Fundacion Mutua madrileña and Universidad Complutense groups CCG07-UCM/BIO-2555.

  • Competing interests None.

  • Patient consent To be provided.

  • Provenance and peer review Not commissioned; externally peer reviewed.