title: Mutations in MPNs: prognostic implications, window to biology, and impact on treatment decisions.
abstract: The last decade has witnessed tremendous scientific advances, ushered in by the JAK2 V617F discovery, contributing to enhanced diagnostic capability and understanding of the biology of myeloproliferative neoplasms (MPNs). Discovery of the calreticulin mutations filled a diagnostic gap; more recent work sheds light on its contribution to disease pathogenesis, and prognosis. Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF). Especially in MF, the driver mutational profile has prognostic implications, with additive contributions from the acquisition of additional somatic mutations. The hope is that sophisticated molecular profiling will not only aid in prognostication, but also guide selection of therapy for patients with MPNs.
authors.affiliation: Division of Hematology Oncology and Stem Cell Transplantation, Rush University Medical Center, Chicago, IL; and.
authors.forename: Jamile M
authors.initials: JM
authors.lastname: Shammo
authors.affiliation: Division of Hematology/Oncology and Robert H. Lurie Comprehensive Cancer Center, Department of Medicine, Northwestern Feinberg University School of Medicine, Chicago, IL.
authors.forename: Brady L
authors.initials: BL
authors.lastname: Stein
mesh_terms: D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D020125:Mutation, Missense; D055728:Primary Myelofibrosis / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D011379:Prognosis; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013920:Thrombocythemia, Essential / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2