Mechanisms of mutations in myeloproliferative neoplasms

Sawyers, 2002, Imatinib induces hematologic and cytogenic responses in patients with chronic myelogenous leukemia in myeloid blast crisis: results of a phase II study, Blood, 99, 3530, 10.1182/blood.V99.10.3530 Shah, 2006, Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis, Blood, 108, 286, 10.1182/blood-2005-10-3969 Cools, 2003, A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome, N Engl J Med, 348, 1201, 10.1056/NEJMoa025217 Gotlib, 2004, The FIP1L1-PDGFRalpha fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management, Blood, 103, 2879, 10.1182/blood-2003-06-1824 James, 2005, A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera, Nature, 434, 1144, 10.1038/nature03546 Levine, 2005, Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis, Cancer Cell, 7, 387, 10.1016/j.ccr.2005.03.023 Baxter, 2005, Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders, Lancet, 365, 1054, 10.1016/S0140-6736(05)74230-6 Kralovics, 2005, A gain-of-function mutation of JAK2 in myeloproliferative disorders, N Engl J Med, 352, 1779, 10.1056/NEJMoa051113 Dusa, 2008, Substitution of pseudokinase domain residue Val-617 by large non-polar amino acids causes activation of JAK2, J Biol Chem, 283, 12941, 10.1074/jbc.M709302200 Wernig, 2006, Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model, Blood, 107, 4274, 10.1182/blood-2005-12-4824 Tiedt, 2008, Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice, Blood, 111, 3931, 10.1182/blood-2007-08-107748 Scott, 2007, JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis, N Engl J Med, 356, 459, 10.1056/NEJMoa065202 Pikman, 2006, MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia, PLoS Med, 3, e270, 10.1371/journal.pmed.0030270 Pardanani, 2006, MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients, Blood, 108, 3472, 10.1182/blood-2006-04-018879 Delhommeau, 2009, Mutation in TET2 in myeloid cancers, N Engl J Med, 360, 2289, 10.1056/NEJMoa0810069 Abdel-Wahab, 2009, Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies, Blood, 114, 144, 10.1182/blood-2009-03-210039 Levine, 2007, Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders, Nat Rev Cancer, 7, 673, 10.1038/nrc2210 Olcaydu, 2009, A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms, Nat Genet, 41, 450, 10.1038/ng.341 Jones, 2009, JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms, Nat Genet, 41, 446, 10.1038/ng.334 Kilpivaara, 2009, A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms, Nat Genet, 41, 455, 10.1038/ng.342