Journal
INTERNATIONAL JOURNAL OF HEMATOLOGY
Volume 97, Issue 2, Pages 183-197Publisher
SPRINGER JAPAN KK
DOI: 10.1007/s12185-012-1235-2
Keywords
Myeloproliferative disorder; Polycythemia vera; Essential thrombocythemia; Primary myelofibrosis
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Funding
- Austrian Science Fund [P23257-B12]
- MPN Research Foundation
- Austrian Science Fund (FWF) [P23257] Funding Source: Austrian Science Fund (FWF)
- Grants-in-Aid for Scientific Research [22118001, 22118002] Funding Source: KAKEN
- Austrian Science Fund (FWF) [P 23257] Funding Source: researchfish
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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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