JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes

Swerdlow, 2008, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. James, 2005, A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera., Nature, 434, 1144, 10.1038/nature03546 Kralovics, 2005, A gain-of-function mutation of JAK2 in myeloproliferative disorders., N Engl J Med, 352, 1779, 10.1056/NEJMoa051113 Cross, 2011, Genetic and epigenetic complexity in myeloproliferative neoplasms., Hematology Am Soc Hematol Educ Program, 208 Passamonti, 2011, Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations., Blood, 117, 2813, 10.1182/blood-2010-11-316810 Rumi, 2013, Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms., Blood, 121, 4388, 10.1182/blood-2013-02-486050 Klampfl, 2013, Somatic mutations of calreticulin in myeloproliferative neoplasms., N Engl J Med, 369, 2379, 10.1056/NEJMoa1311347 Nangalia, 2013, Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2., N Engl J Med, 369, 2391, 10.1056/NEJMoa1312542 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 Passamonti, 2006, Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders., Blood, 107, 3676, 10.1182/blood-2005-09-3826 Scott, 2006, Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia., Blood, 108, 2435, 10.1182/blood-2006-04-018259 Godfrey, 2012, JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone., Blood, 120, 2704, 10.1182/blood-2012-05-431791 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 Passamonti, 2004, Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia., Am J Med, 117, 755, 10.1016/j.amjmed.2004.06.032 Vardiman, 2002, The World Health Organization (WHO) classification of the myeloid neoplasms., Blood, 100, 2292, 10.1182/blood-2002-04-1199 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 Marchioli, 2013, Cardiovascular events and intensity of treatment in polycythemia vera., N Engl J Med, 368, 22, 10.1056/NEJMoa1208500 Thiele, 2005, European consensus on grading bone marrow fibrosis and assessment of cellularity., Haematologica, 90, 1128 McMullin, 2005, Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis., Br J Haematol, 130, 174, 10.1111/j.1365-2141.2005.05535.x McMullin, 2007, Amendment to the guideline for diagnosis and investigation of polycythaemia/erythrocytosis., Br J Haematol, 138, 821, 10.1111/j.1365-2141.2007.06741.x Malcovati, 2009, Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis., Blood, 114, 3538, 10.1182/blood-2009-05-222331 Pietra, 2008, Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders., Blood, 111, 1686, 10.1182/blood-2007-07-101576 Pietra, 2011, Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms., Haematologica, 96, 607, 10.3324/haematol.2010.034793 Prentice, 1978, The analysis of failure times in the presence of competing risks., Biometrics, 34, 541, 10.2307/2530374 Pepe, 1993, Kaplan-Meier, marginal or conditional probability curves in summarizing competing risks failure time data?, Stat Med, 12, 737, 10.1002/sim.4780120803 Fine, 1999, A proportional hazards model for the subdistribution of a competing risk., J Am Stat Assoc, 94, 496, 10.1080/01621459.1999.10474144 Barbui, 2011, Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet., J Clin Oncol, 29, 761, 10.1200/JCO.2010.31.8436 Passamonti, 2012, A prognostic model to predict survival in 867 World Health Organization-defined essential thrombocythemia at diagnosis: a study by the International Working Group on Myelofibrosis Research and Treatment., Blood, 120, 1197, 10.1182/blood-2012-01-403279 Barbui, 2012, Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis)., Blood, 120, 5128, 10.1182/blood-2012-07-444067 Vainchenker, 2013, JAK/STAT signaling in hematological malignancies., Oncogene, 32, 2601, 10.1038/onc.2012.347 Passamonti, 2010, A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications., Leukemia, 24, 1574, 10.1038/leu.2010.148 Wolanskyj, 2006, Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors., Mayo Clin Proc, 81, 159, 10.4065/81.2.159 Hultcrantz, 2012, Patterns of survival among patients with myeloproliferative neoplasms diagnosed in Sweden from 1973 to 2008: a population-based study., J Clin Oncol, 30, 2995, 10.1200/JCO.2012.42.1925 Dupont, 2007, The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera., Blood, 110, 1013, 10.1182/blood-2006-10-054940 Chen, 2010, Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling., Cancer Cell, 18, 524, 10.1016/j.ccr.2010.10.013 Wang, 2012, Calreticulin signaling in health and disease., Int J Biochem Cell Biol, 44, 842, 10.1016/j.biocel.2012.02.009 Carobbio, 2011, Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients., Blood, 117, 5857, 10.1182/blood-2011-02-339002 Arellano-Rodrigo, 2006, Increased platelet and leukocyte activation as contributing mechanisms for thrombosis in essential thrombocythemia and correlation with the JAK2 mutational status., Haematologica, 91, 169