title: Gene mutations in myeloproliferative neoplasms.
abstract: This review outlines recent advances in the understanding of gene alterations and the genetic background associated with myeloproliferative neoplasms (MPNs), as well as describing the roles of these genetic factors in the development of MPNs. JAK2, CALR, and MPL mutations that are specifically found in patients with MPNs have been shown to constitutively activate cytokine receptors. Other mutations that are commonly found in hematopoietic malignancies have been demonstrated to synergize with disease-specific mutations and to accelerate the development of MPN, or to define the disease subtype. However, some of these mutations are found in healthy elderly persons, such that the mechanism of MPN development remains elusive. Further analyses including those for genetic factors associated with the occurrence of MPN will lead to a complete understanding of MPN development.
authors.affiliation: Department of Transfusion Medicine and Stem Cell Regulation, Juntendo University Graduate School of Medicine.
authors.forename: Marito
authors.initials: M
authors.lastname: Araki
authors.forename: Soji
authors.initials: S
authors.lastname: Morishita
authors.forename: Norio
authors.initials: N
authors.lastname: Komatsu
mesh_terms: D064032:Calbindin 2 / Q000235:genetics*; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D053628:Receptors, Thrombopoietin / Q000235:genetics*
chemical_list: C576764:CALB2 protein, human; D064032:Calbindin 2; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2