Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia

James, 2005, A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera., Nature, 434, 1144, 10.1038/nature03546 Baxter, 2005, Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders., Lancet, 365, 1054, 10.1016/S0140-6736(05)71142-9 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 Kralovics, 2005, A gain-of-function mutation of JAK2 in myeloproliferative disorders., N Engl J Med, 352, 1779, 10.1056/NEJMoa051113 Vannucchi, 2007, Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia., Blood, 110, 840, 10.1182/blood-2006-12-064287 Antonioli, 2005, Clinical implications of the JAK2 V617F mutation in essential thrombocythemia., Leukemia, 19, 1847, 10.1038/sj.leu.2403902 Campbell, 2005, Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study., Lancet, 366, 1945, 10.1016/S0140-6736(05)67785-9 Wolanskyj, 2005, JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance., Br J Haematol, 131, 208, 10.1111/j.1365-2141.2005.05764.x Antonioli, 2008, Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia., Haematologica, 93, 41, 10.3324/haematol.11653 Campbell, 2006, V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis., Blood, 107, 2098, 10.1182/blood-2005-08-3395 Tefferi, 2005, The JAK2 tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates., Br J Haematol, 131, 320, 10.1111/j.1365-2141.2005.05776.x Barosi, 2007, JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis., Blood, 110, 4030, 10.1182/blood-2007-07-099184 Tefferi, 2008, Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival., Leukemia, 22, 756, 10.1038/sj.leu.2405097 Pardanani, 2006, MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients., Blood, 108, 3472, 10.1182/blood-2006-04-018879 Lasho, 2006, Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time., Br J Haematol, 135, 683, 10.1111/j.1365-2141.2006.06348.x Guglielmelli, 2007, Anaemia characterises patients with myelofibrosis harbouring Mpl mutation., Br J Haematol, 137, 244, 10.1111/j.1365-2141.2007.06565.x Pikman Y Lee BH Mercher T MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006 3 e270 http://medicine.plosjournals.org/ Vardiman, 2002, The World Health Organization (WHO) classification of the myeloid neoplasms., Blood, 100, 2292, 10.1182/blood-2002-04-1199 Murphy, 1997, Experience of the Polycythemia Vera Study Group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment., Semin Hematol, 34, 29 Policitemia, 1995, Polycythemia vera: the natural history of 1213 patients followed for 20 years., Ann Intern Med, 123, 656, 10.7326/0003-4819-123-9-199511010-00003 Marchioli, 2005, Vascular and neoplastic risk in a large cohort of patients with polycythemia vera., J Clin Oncol, 23, 2224, 10.1200/JCO.2005.07.062 Barosi, 2008, Proposed criteria for the diagnosis of post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a consensus statement from the international working group for myelofibrosis research and treatment., Leukemia, 22, 437, 10.1038/sj.leu.2404914 Levine, 2006, X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis., Blood, 107, 4139, 10.1182/blood-2005-09-3900 Vannucchi, 2007, Prospective identification of high-risk polycythemia vera patients based on JAK2V617F allele burden., Leukemia, 21, 1952, 10.1038/sj.leu.2404854 Pancrazzi, A sensitive detection method for MPLW515L or W515K mutation in chronic myeloproliferative disorders with LNA-modified probes and real time PCR., J Mol Diagn Thiele, 2005, European consensus on grading bone marrow fibrosis and assessment of cellularity., Haematologica, 90, 1128 Michiels, 2002, Clinical and pathological criteria for the diagnosis of essential thrombocythemia, polycythemia vera, and idiopathic myelofibrosis (agnogenic myeloid metaplasia)., Int J Hematol, 76, 133, 10.1007/BF02982575 Chaligné, 2007, Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis., Blood, 110, 3735, 10.1182/blood-2007-05-089003 Pardanani, 2007, Extending JAK2V617F and MPLW515 mutation analysis to single hematopoietic colonies and B- and T-lymphocytes., Stem Cells, 25, 2358, 10.1634/stemcells.2007-0175 Staerk, 2006, An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor., Blood, 107, 1864, 10.1182/blood-2005-06-2600 Akkerman, 2006, Thrombopoietin and platelet function., Semin Thromb Hemost, 32, 295, 10.1055/s-2006-939442 Usuki, 1997, Influence of thrombopoietin on platelet activation in myeloproliferative disorders., Br J Haematol, 97, 530, 10.1046/j.1365-2141.1997.802720.x Beer, 2008, MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort., Blood, 112, 141, 10.1182/blood-2008-01-131664 Williams, 2007, Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis., Exp Hematol, 35, 1641, 10.1016/j.exphem.2007.08.010 Tefferi, 2007, Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel., Blood, 110, 1092, 10.1182/blood-2007-04-083501