Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms.

ABSTRACT: The myeloproliferative neoplasms are a heterogeneous group of clonal disorders characterized by the overproduction of mature cells in the peripheral blood, together with an increased risk of thrombosis and progression to acute myeloid leukemia. The majority of patients with Philadelphia-chromosome negative myeloproliferative neoplasms harbor somatic mutations in Janus kinase 2, leading to constitutive activation. Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen. Although the cellular and molecular consequences of many of these mutations remain unclear, it seems likely that they

SUBMITTER: Grinfeld J 

PROVIDER: S-EPMC5210228 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature