Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms

Baxter, 2005, Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders., Lancet, 365, 1054, 10.1016/S0140-6736(05)71142-9

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

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

Etheridge, 2014, A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis., Blood, 123, 1059, 10.1182/blood-2012-12-473777

Mead, 2012, Germline JAK2 mutation in a family with hereditary thrombocytosis., N Engl J Med, 366, 967, 10.1056/NEJMc1200349

Rumi, 2014, A novel germline JAK2 mutation in familial myeloproliferative neoplasms., Am J Hematol, 89, 117, 10.1002/ajh.23614

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

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

Beer, 2008, MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort., Blood, 112, 141, 10.1182/blood-2008-01-131664

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

Ding, 2004, Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin., Blood, 103, 4198, 10.1182/blood-2003-10-3471

Abdel-Wahab, 2010, Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias., Cancer Res, 70, 447, 10.1158/0008-5472.CAN-09-3783

Delhommeau, 2009, Mutation in TET2 in myeloid cancers., N Engl J Med, 360, 2289, 10.1056/NEJMoa0810069

Grand, 2009, Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms., Blood, 113, 6182, 10.1182/blood-2008-12-194548

Zhang, 2012, Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome., Blood, 119, 4480, 10.1182/blood-2011-11-390252

Swerdlow, 2008, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues.

Vardiman, 2009, The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes., Blood, 114, 937, 10.1182/blood-2009-03-209262

Milosevic, 2012, Clinical significance of genetic aberrations in secondary acute myeloid leukemia., Am J Hematol, 87, 1010, 10.1002/ajh.23309

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

Defour, 2013, Tryptophan at the transmembrane-cytosolic junction modulates thrombopoietin receptor dimerization and activation., Proc Natl Acad Sci USA, 110, 2540, 10.1073/pnas.1211560110

Kawamata, 2008, Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray., Exp Hematol, 36, 1471, 10.1016/j.exphem.2008.06.006

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

Hitchcock, 2008, YRRL motifs in the cytoplasmic domain of the thrombopoietin receptor regulate receptor internalization and degradation., Blood, 112, 2222, 10.1182/blood-2008-01-134049

Harutyunyan, 2012, Role of germline genetic factors in MPN pathogenesis., Hematol Oncol Clin North Am, 26, 1037, 10.1016/j.hoc.2012.07.005

Lambert, 2012, A novel mutation in MPL (Y252H) results in increased thrombopoietin sensitivity in essential thrombocythemia., Am J Hematol, 87, 532, 10.1002/ajh.23138

El-Harith, 2009, Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene., Br J Haematol, 144, 185, 10.1111/j.1365-2141.2008.07430.x

Feese, 2004, Structure of the receptor-binding domain of human thrombopoietin determined by complexation with a neutralizing antibody fragment., Proc Natl Acad Sci USA, 101, 1816, 10.1073/pnas.0308530100

Chen, 2010, Identification of the residues in the extracellular domain of thrombopoietin receptor involved in the binding of thrombopoietin and a nuclear distribution protein (human NUDC)., J Biol Chem, 285, 26697, 10.1074/jbc.M110.120956

Tefferi, 2014, CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons., Leukemia, 28, 1472, 10.1038/leu.2014.3

Panovska-Stavridis, 2014, Familiar JAK2 G571S variant not linked with essential trombocythemia [abstract]., Blood, 124, 5585, 10.1182/blood.V124.21.5585.5585

Campregher, 2014, Genomic profile of patients with triple negative (JAK2, CALR and MPL) essential thrombocythemia and primary myelofibrosis [abstract]., Blood, 124, 10.1182/blood.V124.21.4589.4589

Cabagnols, Mutational profile in essential thrombocytemia (Et) “negative” for Jak2 and Mpl [abstract]., Haematologica