Progress in Hematology Genetic and epigenetic alterations in hematopoietic malignancies

International Journal of Hematology

, Volume 97, Issue 2, pp 183-197

Genetic and epigenetic alterations of myeloproliferative disorders

  • Jelena D. MilosevicAffiliated withCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
  • , Robert KralovicsAffiliated withCeMM Research Center for Molecular Medicine of the Austrian Academy of SciencesDivision of Hematology and Blood Coagulation, Department of Internal Medicine I, Medical University of Vienna Email author 

Abstract

The classical BCR–ABL negative myeloproliferative neoplasms (MPN) polycythemia vera, essential thrombocythemia, and primary myelofibrosis are clonal hematopoietic disorders characterized by excessive production of terminally differentiated myeloid cells. In MPN patients, the disease can progress to secondary myelofibrosis or acute myeloid leukemia. Clonal hematopoiesis, disease phenotype, and progression are caused by somatically acquired genetic lesions of genes involved in cytokine signaling, RNA splicing, as well as epigenetic regulation. This review provides an overview of point mutations and cytogenetic lesions associated with MPN and addresses the role of these somatic lesions in MPN disease progression.

Keywords

Myeloproliferative disorder Polycythemia vera Essential thrombocythemia Primary myelofibrosis