International Journal of Hematology

DOI: 10.1007/s12185-012-1235-2 Pages: 183-197

Genetic and epigenetic alterations of myeloproliferative disorders

1. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences

2. Medical University of Vienna, Division of Hematology and Blood Coagulation, Department of Internal Medicine I

Correspondence to:
Robert Kralovics
Tel: +43-1-4016070027
Fax: +43-1-40160790000



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.

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