University of Wisconsin Hematology

Myeloproliferative disorders

Biology

  1. Grinfeld et al. Classification and Personalized Prognosis in Myeloproliferative Neoplasms. NEJM 2018;379:1416
  2. Nangalia and Green. Myeloproliferative neoplasms: from origins to outcomes. Blood 2017;130:2475
  3. Paz et al. Genetic basis and molecular profiling in myeloproliferative neoplasms. Blood 2023;141:1909
  4. How et al. Biology and therapeutic targeting of molecular mechanisms in MPNs. Blood 2023;141:1922
  5. Karagianni and Ravid. Myeloproliferative disorders and their effects on bone homeostasis: the role of megakaryocytes. Blood 2022;139:3127
  6. Papadantonakis et al. Megakaryocyte pathology and bone marrow fibrosis: the lysyl oxidase connection. Blood 2012;120:1774
  7. Landgren et al. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24 577 first-degree relatives of 11 039 patients with myeloproliferative neoplasms in Sweden. Blood 2008;112:2199 (5-7 fold increased risk of MPD in first-degree relatives of patients)
  8. Rollison et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood 2008;112:45
  9. Hasselbalch HC. Perspectives on chronic inflammation in essential thrombocythemia, polycythemia vera, and myelofibrosis: is chronic inflammation a trigger and driver of clonal evolution and development of accelerated atherosclerosis and second cancer? Blood 2012;119:3219
  10. Mead and Mullally. Myeloproliferative neoplasm stem cells. Blood 2017;129:1607
  11. Beer et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood 2008;112:141
  12. Ishii et al. Pivotal role of mast cells in pruritogenesis in patients with myeloproliferative disorders. Blood 2009;113:5942
  13. Panova-Noeva et al. JAK2V617F mutation and hydroxyurea treatment as determinants of immature platelet parameters in essential thrombocythemia and polycythemia vera patients. Blood 2011;118:2599 (Possible prothrombotic effect of JAK2 mutation, and antithrombotic effect of myelosuppressive treatment)
  14. Tefferi and Vannucchi. Genetic risk assessment in myeloproliferative neoplasms. Mayo Clin Proc 2017;92:1283
  15. Klampfl et al. Somatic mutations in calreticulin in myeloproliferative neoplasms. NEJM 2013;369:2379 (Most patients with JAK2-negative ET or MF have mutations in CALR; with editorial)
  16. Nangalia et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. NEJM 2013;369:2391(With editorial)
  17. Cazzola and Kralovics. From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms. Blood 2014;123: 3714
  18. Pecquet et al. Calreticulin mutants as oncogenic rogue chaperones for TpoR and traffic-defective pathogenic TpoR mutants. Blood 2019;133:2669(CALR mutants promote dimerization and activation of TPO receptor)
  19. How et al. Mutant calreticulin in myeloproliferative neoplasms. Blood 2019;134:2242
  20. Tefferi et al. Targeted deep sequencing in polycythemia vera and essential thrombocythemia. Blood Adv 2016;1:21(98% of PV patients have JAK2 mutations; for ET, 52% have JAK2 mutations, 26% CALR, and 4% CALR. Several other mutations predicted poor prognosis)
  21. Ortmann et al. Effect of Mutation Order on Myeloproliferative Neoplasms. NEJM 2015;372;601(Order of acquisition of JAK2 and TET2 mutations affects MPN phenotype and response to therapy; with editorial)
  22. Osorio et al. Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling. Nat Med 2016;22:91 (with editorial)
  23. Wen et al. Targeting megakaryocytic-induced fibrosis in myeloproliferative neoplasms by AURKA inhibition. Nat Med 2015;21:1473
  24. Feenstra et al. Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms. Blood 2016;127:325
  25. Cabagnols et al. Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients. Blood 2016;127:333

General Clinical

  1. Spivak J. Myeloproliferative neoplasms. NEJM 2017;376:2168
  2. Pasquer et al. Current myeloproliferative neoplasm scoring systems for clinical practice. Blood 2025;145:257
  3. Tefferi et al. 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 2007;110:1092
  4. Barbui et al. Philadelphia-Negative Classical Myeloproliferative Neoplasms: Critical Concepts and Management Recommendations From European LeukemiaNet. J Clin Oncol 2011;29:761
  5. Tefferi and Barbui. Essential Thrombocythemia and Polycythemia Vera: Focus on Clinical Practice. Mayo Clin Proc 2015;90:1283
  6. Rumi and Cazzola. Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms. Blood 2017;129:680
  7. Vannucchi and Harrison. Emerging treatments for classical myeloproliferative neoplasms. Blood 2017;129:693
  8. Geyer and Mesa Therapy for myeloproliferative neoplasms: when, which agent, and how? Blood 2014;124:3529
  9. Tefferi et al. Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. Blood 2014;124:2507(Life expectancy in ET reduced, but less so than in PV. Mutational status markedly affects prognosis in MF, not in ET)
  10. Geyer et al. Distinct clustering of symptomatic burden among myeloproliferative neoplasm patients: retrospective assessment in 1470 patients. Blood 2014;123: 3803
  11. Campbell and Green. Management of Polycythemia Vera and Essential Thrombocythemia. Hematology 2005:201-208
  12. Björkholm et al. Treatment-Related Risk Factors for Transformation to Acute Myeloid Leukemia and Myelodysplastic Syndromes in Myeloproliferative Neoplasms. J Clin Oncol 2011;29:2410(Alkylating agents and P32, but not hydroxyurea, increased risk of transformation to AML/MDS)
  13. Thepot et al. Treatment of progression of Philadelphia-negative myeloproliferative neoplasms to myelodysplastic syndrome or acute myeloid leukemia by azacitidine: a report on 54 cases on the behalf of the Groupe Francophone des Myelodysplasies (GFM). Blood 2010;116:3735
  14. Vardiman et al. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292
  15. Vardiman and Hyjek. World Health Organization classification, evaluation, and genetics of the myeloproliferative neoplasm variants. Hematology 2011:250
  16. Barosi et al. Response criteria for essential thrombocythemia and polycythemia vera: result of a European LeukemiaNet consensus conference. Blood 2009;113:4829
  17. Ruggeri et al.  The Rate of Progression to Polycythemia Vera or Essential Thrombocythemia in Patients with Erythrocytosis or Thrombocytosis. Ann Intern Med 2003;139:470
  18. Giona et al. Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: clinical and biologic features, treatment, and long-term outcome. Blood 2012;119:2219(Low complication rate during median 10 year followup)
  19. Barbui et al. Disease characteristics and clinical outcome in young adults with essential thrombocythemia versus early/prefibrotic primary myelofibrosis. Blood 2012;120:569
  20. Quintás-Cardama et al. Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α-2a. Blood 2013;122:893.(Complete molecular response in about 18% of patients)
  21. Robinson et al. How I treat myeloproliferative neoplasms in pregnancy. Blood 2024;143:777
  22. Ruggeri et al. Postsurgery outcomes in patients with polycythemia vera and essential thrombocythemia: a retrospective survey. Blood 2008;111:666(Thrombosis and major bleeding common after surgery)
  23. Rumi et al. Familial Chronic Myeloproliferative Disorders: Clinical Phenotype and Evidence of Disease Anticipation. J Clin Oncol 2007;25:5630
  24. Dunbar et al. Leukemia secondary to myeloproliferative neoplasms. Blood 2020;136:61
  25. Yogarajah and Tefferi. Leukemic Transformation in Myeloproliferative Neoplasms: A Literature Review on Risk, Characteristics, and Outcome. Mayo Clin Proc 2017;92:1118(Very poor prognosis; aggressive chemo + allo-HSCT offers best chance of survival)
  26. Tam et al. The natural history and treatment outcome of blast phase BCR-ABL–negative myeloproliferative neoplasms. Blood 2008;112:1628(46% remission rate with induction chemotherapy, but responses not durable. Stem cell transplant gave best outcome)
  27. Kennedy et al. Treatment outcomes following leukemic transformation in Philadelphia-negative myeloproliferative neoplasms. Blood 2013;121:2725(2 yr OS 15%)
  28. Frederiksen et al. Chronic myeloproliferative neoplasms and subsequent cancer risk: a Danish population-based cohort study. Blood 2011;118:6515(Modest increased risk for non-hematologic cancers in CML, ET, PV)
  29. England et al. Clinical Features and Long-Term Outcomes of a Pan-Canadian Cohort of Adolescents and Young Adults with Myeloproliferative Neoplasms: A Canadian MPN Group Study. Leukemia 2024;38:570

Hemostasis in myeloproliferative disorders

  1. Hasselbalch et al. The pathobiology of thrombosis, microvascular disease, and hemorrhage in the myeloproliferative neoplasms. Blood 2021;137:2152
  2. Stein and Martin. From Budd-Chiari syndrome to acquired von Willebrand syndrome: thrombosis and bleeding complications in the myeloproliferative neoplasms. Blood 2019; 134:1902
  3. Barbui et al. Myeloproliferative neoplasms and thrombosis. Blood 2013;122:2176
  4. Moliterno et al. Clinical insights into the origins of thrombosis in myeloproliferative neoplasms. Blood 2021;137:1145
  5. Guy et al. How I approach the treatment of thrombotic complications in patients with myeloproliferative neoplasms. Blood 2025;145:1789
  6. Casini et al. Thrombotic complications of myeloproliferative neoplasms: risk assessment and risk-guided management. J Thromb Haemost 2013;11:1215
  7. Zon et al. JAK2-mutant clonal hematopoiesis is associated with venous thromboembolism. Blood 2024;144:2149 (6.6 x higher odds of having VTE)
  8. Hultcrantz et al. Risk for Arterial and Venous Thrombosis in Patients With Myeloproliferative Neoplasms: A Population-Based Cohort Study. Ann Intern Med 2018;168:317(Hazard ratios for both arterial and venous thrombosis high, particularly at and shortly after diagnosis)
  9. Marchetti et al. Thrombin generation and activated protein C resistance in patients with essential thrombocythemia and polycythemia vera. Blood 2008;112:4061(acquired deficiency of free protein S in patients with ET and PV)
  10. Lamrani et al. Hemostatic disorders in a JAK2V617F-driven mouse model of myeloproliferative neoplasm. Blood 2014;124:1136(Accelerated formation of unstable clots; acquired defect in large VWF multimers; deficiency of platelet GP VI)
  11. Lancellotti et al. Qualitative and quantitative modifications of von Willebrand factor in patients with essential thrombocythemia and controlled platelet count. J Thromb Haemost 2015;13:1226
  12. Kubo et al. Increased cleavage of von Willebrand factor by ADAMTS13 may contribute strongly to acquired von Willebrand syndrome development in patients with essential thrombocythemia. J Thromb Haemosst 2022;20:1589
  13. Gangat et al. Site-specific venous thrombosis in essential thrombocythemia: Impact on subsequent vascular events and survival. J Thromb Haemost 2022;20:2439
  14. Carobbio et al. Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients. Blood 2011;117:5857(Overall risk of thrombosis about 2%/pt/yr; extreme thrombocytosis associated with lower risk of arterial events)
  15. Barbui et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organization–essential thrombocythemia (IPSET-thrombosis). Blood 2012;120:5128(Age > 60, CV risk factors, prior thrombosis, and JAK2 mutation increase thrombotic risk in ET)
  16. Patrono et al. Platelet activation and inhibition in polycythemia vera and essential thrombocythemia. Blood 2013;121:1701
  17. Etheridge et al. JAK2V617F-positive endothelial cells contribute to clotting abnormalities in myeloproliferative neoplasms. PNAS 2014;111:2295
  18. Hoekstra et al. Long-term follow-up of patients with portal vein thrombosis and myeloproliferative neoplasms. J Thromb Haemost 2011;9:2208(Recurrent or progressive thrombosis in up to 50%; mortality mainly due to underlying disease rather than thrombosis)
  19. De Stefano et al. Splanchnic vein thrombosis and myeloproliferative neoplasms: molecular-driven diagnosis and long-term treatment. Thromb Haemost 2016;115:240
  20. Le Gall-Ianetto et al. Aquagenic pruritus in essential thrombocythemia is associated with a higher risk of thrombosis. J Thromb Haemost 2019;17:1950
  21. De Stefano et al. Arterial thrombosis in Philadelphia-negative myeloproliferative neoplasms predicts second cancer: a case-control study Blood 2020;135:381(Twofold higher risk of carcinoma)
  22. Ronner et al. Persistent leukocytosis in polycythemia vera is associated with disease evolution but not thrombosis. Blood 2020;135:1698

JAK2 V617F Mutation

  1. Spivak J.Narrative Review: Thrombocytosis, Polycythemia Vera, and JAK2 Mutations: The Phenotypic Mimicry of Chronic Myeloproliferation. Ann Intern Med 2010;152:300
  2. Moliterno et al. JAK2V617F allele burden in polycythemia vera: burden of proof. Blood 2023;141:1934
  3. Levine and Wernig. Role of JAK-STAT Signaling in the Pathogenesis of Myeloproliferative Disorders. Hematology 2006;233-9
  4. Brooks et al. Mechanism of activation of protein kinase JAK2 by the growth hormone receptor. Science 2014;344:710(structure-function relationship in JAK2: with editorial)
  5. Silvennionen and Hubbard. Molecular insights into regulation of JAK2 in myeloproliferative neoplasms. Blood 2015;125:3388
  6. Kralovics R.  A gain-of-function mutation of JAK2 in myeloproliferative disorders.  NEJM 2005;352:1779
  7. Delhommeau et al. Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. Blood 2007;109:71
  8. Teofili et al. Endothelial progenitor cells are clonal and exhibit the JAK2V617F mutation in a subset of thrombotic patients with Ph-negative myeloproliferative neoplasms. Blood 2011;117:2700
  9. Xu et al. JAK2V617F: prevalence in a large Chinese hospital population. Blood 2007;109:339(Mutation found in about 1% of randomly selected blood samples; most positive samples from individuals without overt MPD)
  10. Cordua et al. Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population. Blood 2019;134:469(Prevalence of JAK2 mutation 3.2%, CALR 0.16% using sensitive assay; mutations associated with higher blood counts)
  11. Tefferi A. Classification, Diagnosis and Management of Myeloproliferative Disorders in the JAK2V617F Era. Hematology 2006;240-5
  12. Lippert et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 2006;108:1865 (Mutation common in both diseases, but mutant gene expression higher in PV than ET)
  13. Steensma et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both “atypical” myeloproliferative disorders and myelodysplastic syndromes. Blood 2005;106:1207
  14. Lambert et al. In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm. Blood 2009;114:3018
  15. Passamonti et al. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood 2011;117:2813(Associated with higher Hgb levels, lower WBC and platelet counts, but similar outcomes)
  16. Tiedt et al. Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice. Blood 2008;111:3931(Higher levels of mutant JAK-2 expression lead to P vera phenotype as opposed to ET phenotype)
  17. Boissinot et al. Latent myeloproliferative disorder revealed by the JAK2-V617F mutation and endogenous megakaryocytic colonies in patients with splanchnic vein thrombosis. Blood 2006;108:3223
  18. Kiladjian et al. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases. Blood 2008;111:4922
  19. Dentali et al. JAK2V617F mutation for the early diagnosis of Ph– myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis. Blood 2009;113: 5617
  20. Smalberg et al. The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis. Blood 2011;117:3968(This haplotype constitutes an inherited risk factor for myeloproliferative disorders, including JAK2 V617F negative cases)
  21. Vannucchi et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 2007;110:840(Homozygosity associated with more symptoms and higher risk of cardiovascular events)
  22. Barosi et al. JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. Blood 2007;110:4030
  23. Beer et al. Two routes to leukemic transformation after a JAK2 mutation–positive myeloproliferative neoplasm. Blood 2010;115:2891(JAK2 + AML preceded by myelofibrotic stage; JAK2-negative AML may arise from a separate clone)
  24. Passamonti et al. Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2 (617V>F) mutation. Blood 2007; 110:485
  25. Dentali et al. JAK2V617F mutation for the early diagnosis of Ph– myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis. Blood 2009;113:5617(JAK-2 often associated with splanchnic vein thrombosis but not other forms of VTE)
  26. Passamonti et al. The JAK2 V617F mutation in patients with cerebral venous thrombosis. J Thromb Haemost 2012;10:998(6.6% of patients had the mutation, most of whom had clinical evidence of MPD)
  27. Verstovsek S. Therapeutic potential of JAK2 inhibitors. Hematology 2009;636

JAK-2 inhibitor treatment of myeloproliferative disorders

  1. Masarova and Chifotides. How I individualize selection of JAK inhibitors for patients with myelofibrosis. Blood 2025;145:1724
  2. Passamonti and Maffioli. The role of JAK2 inhibitors in MPNs 7 years after approval. Blood 2018;131:2426
  3. Mascarenhas and Hoffman. A comprehensive review and analysis of the effect of ruxolitinib therapy on the survival of patients with myelofibrosis. Blood 2013;121:4832
  4. Bose and Verstovsek. JAK2 inhibitors for myeloproliferative neoplasms: what is next? Blood 2017;130:115
  5. Vannucchi et al. Ruxolitinib versus Standard Therapy for the Treatment of Polycythemia Vera. NEJM 2015;372:426(Ruxolitinib superior to “standard therapy” in PV patients who fail hydroxyurea)
  6. Harrison et al. Ruxolitinib Versus Best Available Therapy for Polycythemia Vera Intolerant or Resistant to Hydroxycarbamide in a Randomized Trial. J Clin Oncol 2023;41:3534
  7. Vertovsek et al. Safety and Efficacy of INCB018424, a JAK1 and JAK2 Inhibitor, in Myelofibrosis. NEJM 2010;363:1117 (This is the same drug as ruxolitinib. Treatment reduces splenomegaly and constitutional symptoms, independent of JAK2 mutation status; with editorial)
  8. Harrison et al. JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis. NEJM 2012;366:787(Treatment associated with significant improvement in splenomegaly and symptoms, better QOL, modest toxicity)
  9. Verstovsek et al. A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis. NEJM 2012;366:799(Treatment associated with less splenomegaly, improved symptoms, improved survival)
  10. Verstovsek et al. Long-term outcomes of 107 patients with myelofibrosis receiving JAK1/JAK2 inhibitor ruxolitinib: survival advantage in comparison to matched historical controls. Blood 2012;120:1202
  11. Passamonti et al. Impact of ruxolitinib on the natural history of primary myelofibrosis: a comparison of the DIPSS and the COMFORT-2 cohorts. Blood 2014;123:1833(Ruxolitnib appears to improve survival)
  12. Cervantes et al. Does ruxolitinib prolong the survival of patients with myelofibrosis? Blood 2017;129:832 (Maybe but evidence weak)
  13. Cervantes et al. Three-year efficacy, safety, and survival findings from COMFORT-II, a phase 3 study comparing ruxolitinib with best available therapy for myelofibrosis. Blood 2013;122:4047
  14. Deininger et al. The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis. Blood 2015;126:1551(Treatment decreases allele burden, about 10% of patients achieve partial or complete mol remission)
  15. Guglielmelli et al. Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study. Blood 2014;123:2157(Efficacy of ruxolitnib not dependent on JAK2 mutation status)
  16. Harrison et al. Addition of Navitoclax to Ongoing Ruxolitinib Therapy for Patients With Myelofibrosis With Progression or Suboptimal Response: Phase II Safety and Efficacy. J Clin Oncol 2022;40:1671
  17. Newberry et al. Clonal evolution and outcomes in myelofibrosis after ruxolitinib discontinuation. Blood 2017;130:1125
  18. Harrison et al. Ruxolitinib vs best available therapy for ET intolerant or resistant to hydroxycarbamide. Blood 2017;130:1889(Ruxolitinib improved some symptoms bud did not prevent complications or transformation)
  19. Tefferi A. Challenges facing JAK inhibitor therapy for myeloproliferative neoplasms. NEJM 2012;366:844
  20. Heine et al. The JAK-inhibitor ruxolitinib impairs dendritic cell function in vitro and in vivo. Blood 2013;122:1192(May account for the anti-inflammatory and immunomodulatory effects of the drug)
  21. Komrokji et al. Results of a phase 2 study of pacritinib (SB1518), a JAK2/JAK2(V617F) inhibitor, in patients with myelofibrosis. Blood 2015;125:2649
  22. Mesa et al. Pacritinib versus best available therapy for the treatment of myelofibrosis irrespective of baseline cytopenias (PERSIST-1): an international, randomised, phase 3 trial. Lancet Haematol 2017;4:e225(Less myelosuppressive than ruxolitinib)
  23. Kiladjian et al. Long-term efficacy and safety of ruxolitinib versus best available therapy in polycythaemia vera (RESPONSE): 5-year follow up of a phase 3 study. Lancet Haematol 2020;7:e226(Ruxolitinib safe and effective in HU-intolerant or resistant patients)
  24. Meyer et al. Genetic studies reveal an unexpected negative regulatory role for Jak2 in thrombopoiesis. Blood 2014;124:2280(Possible explanation for thrombocytopenia caused by JAK2 inhibitors)
  25. Porpaczy et al. Aggressive B-cell lymphomas in patients with myelofibrosis receiving JAK1/2 inhibitor therapy. Blood 2018;132:694(16-fold higher risk of lymphoma with treatment)
  26. Grunwald and Spivak. Ruxolitinib Enhances Platelet Production in Patients With Thrombocytopenic Myelofibrosis. J Clin Oncol 2016;34:e38
  27. Beckman et al. JAK-STAT inhibition reduces endothelial prothrombotic activation and leukocyte–endothelial proadhesive interactions. J Thromb Haemost 2023;21:1366
  28. Rampotas et al. Outcomes and characteristics of nonmelanoma skin cancers in patients with myeloproliferative neoplasms on ruxolitinib. Blood 2024;143:178 (High rates of recurrence and metastatic spread)
  29. Verstovsek et al. Momelotinib versus danazol in symptomatic patients with anaemia and myelofibrosis (MOMENTUM): results from an international, double-blind, randomised, controlled, phase 3 study. Lancet 2023;401:269
  30. Verstovsek et al. Momelotinib long-term safety and survival in myelofibrosis: integrated analysis of phase 3 randomized controlled trials. Blood Adv 2023;7:3582
  31. Bose P. Momelotinib for the treatment of myelofibrosis. Blood 2024;144:708

Marrow & stem cell transplant in myeloproliferative disorders

Myelofibrosis/myeloid metaplasia

  1. Kröger et al. How I treat transplant-eligible patients with myelofibrosis. Blood 2023;142:1683
  2. Passamonti and Mora.  Myelofibrosis. Blood 2023;141:1954
  3. Papadantonakis et al. Megakaryocyte pathology and bone marrow fibrosis: the lysyl oxidase connection. Blood 2012;120:1774
  4. Rumi et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood 2014;124:1062(65% of 617 patients had JAK2 mutation, 23% CALR, 4% MPL, 9% triple negative. CALR mutations associated with better prognosis)
  5. Tefferi et al. Targeted deep sequencing in primary myelofibrosis. Blood Adv 2016;1:105(>80% have mutations in JAK2, CALR or MPL)
  6. Cervantes F. How I treat myelofibrosis. Blood 2014;124:2635
  7. Jain and Gerds. How I treat anemia in myelofibrosis. Blood 2025;145:1738
  8. Pardanani and Tefferi. How I treat myelofibrosis after failure of JAK inhibitors. Blood 2018;132:492
  9. Cervantes et al. Improving survival trends in primary myelofibrosis: an international study. J Clin Oncol 2012;30:2981
  10. Tefferi et al. One thousand patients with primary myelofibrosis: The Mayo Clinic experience. Mayo Clin Proc 2012;87:25
  11. Cervantes et al. New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 2009;113:2895
  12. Guglielmelli et al. MIPSS70: Mutation-Enhanced International Prognostic Score System for Transplantation-Age Patients With Primary Myelofibrosis. J Clin Oncol 2018;36:310
  13. Passamonti et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood 2010;115:1703
  14. Guglielmelli et al. Presentation and outcome of patients with 2016 WHO diagnosis of prefibrotic and overt primary myelofibrosis. Blood 2017;129:3227(Median survival 7.2 y for overt MF vs 17.6 y for pre-MF)
  15. Morel et al. Identification during the follow-up of time-dependent prognostic factors for the competing risks of death and blast phase in primary myelofibrosis: a study of 172 patients. Blood 2010;115:4350
  16. Guglielmelli et al. Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood 2009;114:1477
  17. Tefferi et al. Predictors of greater than 80% 2-year mortality in primary myelofibrosis: a Mayo Clinic study of 884 karyotypically annotated patients. Blood 2011;118:4595(Circulating blasts > 9%, WBC > 40K and specific cytogenetic abnormalities associated with poor prognosis)
  18. Lasho et al. SRSF2 mutations in primary myelofibrosis: significant clustering with IDH mutations and independent association with inferior overall and leukemia-free survival. Blood 2012;120:4168
  19. Xu et al .Unique features of primary myelofibrosis in Chinese. Blood 2012;119:2469(Patients younger, less splenomegaly and constintutional symptoms, more anemia/thrombocytopenia)
  20. Mesa et al.  A phase 2 trial of combination low-dose thalidomide and prednisone for the treatment of myelofibrosis with myeloid metaplasia. Blood 2003;101:2534
  21. Tefferi et al. Lenalidomide therapy in myelofibrosis with myeloid metaplasia. Blood 2006;108:1158(Dramatic improvement in a subset of patients)
  22. Jabbour et al. Comparison of thalidomide and lenalidomide as therapy for myelofibrosis. Blood 2011;118:899(Lenalidomide plus prednisone more effective than either lenalidomide or thalidomide alone)
  23. Quintás-Cardama et al. Lenalidomide Plus Prednisone Results in Durable Clinical, Histopathologic, and Molecular Responses in Patients With Myelofibrosis. J Clin Oncol 2009; 27:4760
  24. Mesa et al. Lenalidomide and prednisone for myelofibrosis: Eastern Cooperative Oncology Group (ECOG) phase 2 trial E4903. Blood 2010;116:4436(“Only modestly active”, myelosuppressive)
  25. Tefferi et al. Pomalidomide is active in the treatment of anemia associated with myelofibrosis. J Clin Oncol 2009;27:4563
  26. Silver et al. Recombinant interferon-α may retard progression of early primary myelofibrosis: a preliminary report. Blood 2011;117:6669
  27. Guglielmelli et al. Safety and efficacy of everolimus, a mTOR inhibitor, as single agent in a phase 1/2 study in patients with myelofibrosis. Blood 2011;118:2069 (69% of patients experienced complete symptom relief; 15-25% had improved blood counts)
  28. Fenaux et al. Luspatercept for the treatment of anemia in myelodysplastic syndromes and primary myelofibrosis. Blood 2019;133:790
  29. Tefferi et al. A Pilot Study of the Telomerase Inhibitor Imetelstat for Myelofibrosis. NEJM 2015;373:908 (Responses only seen in patients with JAK2 mutations; myelosuppression main side effect. With editorial)
  30. Mascarenhas et al. Randomized, Single-Blind, Multicenter Phase II Study of Two Doses of Imetelstat in Relapsed or Refractory Myelofibrosis. J Clin Oncol 2021;39:2881
  31. Masarova et al. A phase 2 study of ruxolitinib in combination with azacitidine in patients with myelofibrosis. Blood 2018;132:1664 (Addition of AZA to ruxolitinib appeared in increase response rate by about 25%)
  32. Mascarenhas et al. Pelabresib in Combination With Ruxolitinib for Janus Kinase Inhibitor Treatment-Naïve Myelofibrosis. J Clin Oncol 2023;41:4993 (
  33. Mesa et al. Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood 2005;105:973 (very poor outcome regardless of treatment used)
  34. Vaidya et al. Monosomal karyotype in primary myelofibrosis is detrimental to both overall and leukemia-free survival. Blood 2011;117:5612
  35. Barbui et al. Thrombosis in primary myelofibrosis: incidence and risk factors. Blood 2010;115:778 (Age >60, JAK-2 mutation and leukocytosis increased risk)
  36. Gagelmann et al. Splenic irradiation for myelofibrosis prior to hematopoietic cell transplantation: A global collaborative analysis. Am J Hematol 2024;99:844

Polycythemia vera/erythrocytosis

  1. Tefferi and Barbui. Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management. Am J Hematol 2023;98:1465
  2. Bewersdorf et al. Moving toward disease modification in polycythemia vera. Blood 2023;142:1859
  3. Spivak J. How I treat polycythemia vera. Blood 2019;134:341
  4. McMullin and Harrison. How I treat patients with low-risk polycythemia vera who require cytoreduction. Blood 2025;145:1717
  5. Silver et al. Evaluation of WHO criteria for diagnosis of polycythemia vera: a prospective analysis. Blood 2013;122:1881(Direct measurement of red cell mass more sensitive than Hb or Hct measurements; some patients had normal EPO levels)
  6. Spivak et al. Two clinical phenotypes in polycythemia vera. NEJM 2014;371:808(Gene expression profiling predicts risk of marrow fibrosis & leukemic transformation)
  7. Marchiolli et al. Cardiovascular events and intensity of treatment in polycythemia vera. NEJM 2013;368:22(Fewer cardiovascular deaths or major thrombotic events with target Hct < 45 versus a target Hct of 45-50; with editorialand letters)
  8. Podoltsev et al. The impact of phlebotomy and hydroxyurea on survival and risk of thrombosis among older patients with polycythemia vera. Blood Adv 2018;2:2681(Phlebotomy and HU improve survival and decrease thrombotic risk)
  9. Gruppo Italiano Studio Policitemia. Polycythemia vera: the natural history of 1213 patients followed for 20 years. Ann Intern Med 1995;123:656
  10. Kiladjian et al. Treatment of Polycythemia Vera With Hydroxyurea and Pipobroman: Final Results of a Randomized Trial Initiated in 1980. J Clin Oncol 2011;29:3907(24% of HU-treated patients developed MDS or AML after 20 years; 32% developed myelofibrosis)
  11. Barbui et al. Initial bone marrow reticulin fibrosis in polycythemia vera exerts an impact on clinical outcome. Blood 2012;119:2239(less thrombosis, no impact on overall or leukemia-free survival)
  12. Landolfi et al. Efficacy and Safety of Low-Dose Aspirin in Polycythemia Vera. NEJM 2004;350:114
  13. Marchioli et al. Vascular and Neoplastic Risk in a Large Cohort of Patients With Polycythemia Vera. J Clin Oncol 2005;23:2224
  14. Landolfi et al. Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera. Blood 2007;109:2446
  15. Gerds et al. Association between elevated white blood cell counts and thrombotic events in polycythemia vera: analysis from REVEAL. Blood 2024;143:1646 (WBC >12K associated with 2x risk of thromboembolism despite keeping Hct <45)
  16. Finazzi et al. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood 2005;105:2664(hydroxyurea treatment did not increase leukemia risk)
  17. Alvarez-Larrán et al. Assessment and prognostic value of the European LeukemiaNet criteria for clinicohematologic response, resistance, and intolerance to hydroxyurea in polycythemia vera. Blood 2012;119:1363(Decreased WBC and platelets with HU treatment predicted better survival and fewer thrombohemorrhagic complications, respectively)
  18. Barbui et al. Ropeginterferon versus Standard Therapy for Low-Risk Patients with Polycythemia Vera. NEJM Evid 2023 (Epub) (Ropeg superior to phlebotomy for controlling hematocrit)
  19. Mascarenhas et al. A randomized phase 3 trial of interferon-α vs hydroxyurea in polycythemia vera and essential thrombocythemia. Blood 2022;p139:2931 (Similar outcomes at 12 mo with both drugs; with editorial)
  20. Kiladjian et al. High molecular response rate of polycythemia vera patients treated with pegylated interferon alpha�2a. Blood 2006;108:2037
  21. Kiladjian et al. Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood 2008;112:3065
  22. Quintás-Cardama et al. Pegylated Interferon Alfa-2a Yields High Rates of Hematologic and Molecular Response in Patients With Advanced Essential Thrombocythemia and Polycythemia Vera. J Clin Oncol 2009;27:5418(OR rate 80% in PV)
  23. Gisslinger et al. Ropeginterferon alfa-2b, a novel IFNα-2b, induces high response rates with low toxicity in patients with polycythemia vera. Blood 2015;126:1782
  24. Gisslinger et al. Ropeginterferon alfa-2b versus standard therapy for polycythaemia vera (PROUD-PV and CONTINUATION-PV): a randomised, non-inferiority, phase 3 trial and its extension study. Lancet Haematol 2020;7:e196
  25. Barbui et al. Ropeginterferon alfa-2b versus phlebotomy in low-risk patients with polycythaemia vera (Low-PV study): a multicentre, randomised phase 2 trial. Lancet Haematol 2021;8:e175(Fewer phlebotomies but more side effects with interferon)
  26. Masarova et al. Pegylated interferon alfa-2a in patients with essential thrombocythaemia or polycythaemia vera: a post-hoc, median 83 month follow-up of an open-label, phase 2 trial. Lancet Haematol 2017;4:e165(80% hematologic response rate, 63% molecular response rate, 22% stopped treatment due to toxicity; with editorial)
  27. Yacoub et al. Pegylated interferon alfa-2a for polycythemia vera or essential thrombocythemia resistant or intolerant to hydroxyurea. Blood 2019;134:1498
  28. Mascarenhas et al. Oral idasanutlin in patients with polycythemia vera. Blood 2019;134:525
  29. Kremyanskaya et al. Rusfertide, a Hepcidin Mimetic, for Control of Erythrocytosis in Polycythemia Vera. NEJM 2024390:723
  30. Scott et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. NEJM 2007;356:459 (Variant JAK2 mutations present in most cases of JAK2 V617F negative polycythemia vera and idiopathic erythrocytosis)
  31. Gangat et al. Leucocytosis in polycythaemia vera predicts both inferior survival and leukaemic transformation. Br J Haematol 2007;138:354
  32. Passamonti et al. A dynamic prognostic model to predict survival in post–polycythemia vera myelofibrosis. Blood 2008;111:3383(Hgb < 10, plts < 100K, WBC > 30K all predicted worse survival)
  33. Bennett et al. Iron homeostasis governs erythroid phenotype in polycythemia vera. Blood 2023;141:3199 (10x increase in C282Y homozygosity in PV patients vs general population)

Erythrocytosis- general

  1. Klippel et al. Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis.  Blood 2003;102:3569
  2. Lasho et al. LNK mutations in JAK2 mutation-negative erythrocytosis (letter). NEJM 2010;363:1189
  3. Wu et al. Preoperative Hematocrit Levels and Postoperative Outcomes in Older Patients Undergoing Noncardiac Surgery. JAMA 2007;297:2481
  4. Percy et al. A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis. NEJM 2008;358:162
  5. Franke et al. Erythrocytosis: the HIF pathway in control. Blood 2013;122:1122
  6. Zmajkovic et al. A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. NEJM 2018;378:924(Mutation causing increased EPO production)
  7. McMullin M. Idiopathic erythrocytosis: a disappearing entity. Hematology 2009;629
  8. Zhou et al. Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia (letter). NEJM 2016;375:404
  9. Filser et al. Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis. Blood 2021;137:1828
  10. Kamihara et al. Belzutifan, a Potent HIF2α Inhibitor, in the Pacak–Zhuang Syndrome. NEJM 2021;385:2059(Polycythemia & tumor-predisopsition due to mutations in HIF2α)
  11. Martin et al. Identification of Hepatic-like EPO as a Cause of Polycythemia. NEJM 2025;392:1684 (Familial erythrocytosis due to mutations in non-coding portions of EPO gene; with editorial)

Thrombocytosis/thrombocythaemia

  1. Godfrey et al. Essential thrombocythemia: challenges in clinical practice and future prospects. Blood 2023;141:1943
  2. Tefferi et al. Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management. Am J Hematol 2024;99:697
  3. Skoda R. Thrombocytosis. Hematology 2009;159
  4. Rumi and Cazzola. How I treat essential thrombocythemia. Blood 2016;128:2403
  5. Godfrey et al. Hydroxycarbamide Plus Aspirin Versus Aspirin Alone in Patients With Essential Thrombocythemia Age 40 to 59 Years Without High-Risk Features. J Clin Oncol 2018;36:3361(Younger patients with no history of bleeding/thrombosis, hypertension or diabetes, and plts < 1.5 million should not be given cytoreductive therapy; with editorial)
  6. Marty et al. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. Blood 2014;123:1372
  7. Etheridge et al. A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood 2014;123:1059
  8. Rumi et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood 2014;123:1544(Lower thrombotic risk, similar risk of marrow fibrosis, no transformation to PV in CALR mutated ET)
  9. Rotunno et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood 2014;123:1552(Thrombotic risk no higher than patients lacking CALR mutation)
  10. Giona et al. CALR mutations in patients with essential thrombocythemia diagnosed in childhood and adolescence. Blood 2014;123:3677
  11. Chachoua et al. Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants. Blood 2016;127:1325
  12. Passamonti et al. 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 2012;120:1197(Age > 60, WBC > 11K, history of thrombosis are adverse prognostic features)
  13. Barbui et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organization–essential thrombocythemia (IPSET-thrombosis). Blood 2012;120:5128(Age > 60, CV risk factors, prior thrombosis, and JAK2 mutation increase thrombotic risk in ET)
  14. Gnatenko et al. Class prediction models of thrombocytosis using genetic biomarkers. Blood 2010;115:7(Gene expression profiling better than 90% accurate in distinguishing ET from reactive thrombocytosis)
  15. Wilkins et al. Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood 2008;111:60
  16. Harrison et al. A large proportion of patients with a diagnosis of essential thrombocytosis do not have a clonal disorder and may be at lower risk of thrombotic complications. Blood 1999;93:417
  17. Schafer AI. Bleeding and thrombosis in the myeloproliferative disorders. Blood 1984;64:1
  18. Gangat et al. 1.5 million platelet count limit at essential thrombocythemia diagnosis: correlations and relevance to vascular events. Blood Adv 2022;6:3835 (Retrospective analysis of adverse events in ET vs platelet count)
  19. Carobbio et al. Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients. Blood 2011;117:5857(Overall risk of thrombosis about 2%/pt/yr; extreme thrombocytosis associated with lower risk of arterial events)
  20. Chu et al. Benefits and Risks of Antithrombotic Therapy in Essential Thrombocythemia: A Systematic Review. Ann Intern Med 2017;167:170(“Available evidence about the risk–benefit ratio of antiplatelet therapy in adults with ET is highly uncertain”)
  21. Alvarez-Larrán et al. Observation versus antiplatelet therapy as primary prophylaxis for thrombosis in low-risk essential thrombocythemia. Blood 2010;116:1205.(Among pts < 60 with no prior vascular events, only those who are JAK-2 positive or who have cardiovascular risk factors appear to benefit from aspirin prophylaxis)
  22. Pascale et al. Aspirin-insensitive thromboxane biosynthesis in essential thrombocythemia is explained by accelerated renewal of the drug target. Blood 2012;119:3595(Twice-daily ASA more effective in blocking platelet thromboxane synthesis in ET)
  23. Rocca et al. A randomized double-blind trial of 3 aspirin regimens to optimize antiplatelet therapy in essential thrombocythemia. Blood 2020;136:171(Biochemical evidence of better platelet inhibition with twice daily dosing, no further inprovement with more frequent dosing)
  24. Carobbio et al. Leukocytosis is a risk factor for thrombosis in essential thrombocythemia: interaction with treatment, standard risk factors, and JAK2 mutation status. Blood 2007;109:2310
  25. Carobbio et al. Thrombocytosis and leukocytosis interaction in vascular complications of essential thrombocythemia. Blood 2008;112:3135(thrombotic events associated with lower platelet counts and higher white counts, plus JAK2 mutation)
  26. Carobbio et al. Leukocytosis and Risk Stratification Assessment in Essential Thrombocythemia. J Clin Oncol 2008;26:2732
  27. Carobbio et al. Hydroxyurea in essential thrombocythemia: rate and clinical relevance of responses by European LeukemiaNet criteria. Blood 2010; 116:1051(Probability of thrombosis associated with degree of leukocytosis but not of thrombocytosis)
  28. Campbell et al. Correlation of blood counts with vascular complications in essential thrombocythemia: analysis of the prospective PT1 cohort. Blood 2012;120:1409(Abnormal platelet count correlated with bleeding risk; high WBC correlated with both bleeding and thrombosis)
  29. Vannucchi et al. Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia. Blood 2008;112:844 (lower hemoglobin levels, higher platelet counts, more microvessel disease)
  30. Barbui et al. Disease characteristics and clinical outcome in young adults with essential thrombocythemia versus early/prefibrotic primary myelofibrosis. Blood 2012;120:569
  31. Cortelazzo et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. NEJM 1995;332:1132
  32. Podoltsev et al. Impact of Hydroxyurea on Survival and Risk of Thrombosis Among Older Patients With Essential Thrombocythemia. JNCCN 2019;17:211(HU therapy reduced risk of thrombosis and death in this retrospective study using SEER-Medicare database)
  33. Tefferi et al. Management of extreme thrombocytosis in otherwise low-risk essential thrombocythemia; does number matter? (letter)  Blood 2006;108:2493
  34. Harrison et al. Hydroxyurea Compared with Anagrelide in High-Risk Essential Thrombocythemia. NEJM 2005;353:33 (hydroxyurea plus aspirin superior to anagrelide plus aspirin; with editorial)
  35. Gisslinger et al. Anagrelide compared with hydroxyurea in WHO-classified essential thrombocythemia: the ANAHYDRET Study, a randomized controlled trial. Blood 2013;121:1720(Anagrelide non-inferior to HU in preventing thrombotic complications; aspirin use not controlled for)
  36. Quintás-Cardama et al. Pegylated Interferon Alfa-2a Yields High Rates of Hematologic and Molecular Response in Patients With Advanced Essential Thrombocythemia and Polycythemia Vera. J Clin Oncol 2009;27:5418(OR rate 81% in ET)
  37. Masarova et al. Pegylated interferon alfa-2a in patients with essential thrombocythaemia or polycythaemia vera: a post-hoc, median 83 month follow-up of an open-label, phase 2 trial. Lancet Haematol 2017;4:e165(80% hematologic response rate, 63% molecular response rate, 22% stopped treatment due to toxicity; with editorial)
  38. Yacoub et al. Pegylated interferon alfa-2a for polycythemia vera or essential thrombocythemia resistant or intolerant to hydroxyurea. Blood 2019;134:1498
  39. Baerlocher et al. Telomerase Inhibitor Imetelstat in Patients with Essential Thrombocythemia. NEJM 2015;373:920 (89% attained normal platelet count; neutropenia common. With editorial)
  40. Campbell et al. Reticulin Accumulation in Essential Thrombocythemia: Prognostic Significance and Relationship to Therapy. J Clin Oncol 2009;27:2991 (Reticulin grade at diagnosis is an independent prognostic factor in ET. Anagrelide treatment associated with greater increase in reticulin over time than hydroxyurea treatment)
  41. Passamonti et al. Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2 (617V>F) mutation. Blood 2007; 110:485
  42. Skeith et al. Risk of venous thromboembolism in pregnant women with essential thrombocythemia: a systematic review and meta-analysis. Blood 2017;129:934 (2.5% incidence antepartum, 4.4% postpartum)

Eosinophilia/hypereosinophilic syndrome

  1. Larsen and Savage. How I investigate eosinophilia.  Int J Lab Hematol 2019;41:153
  2. Klion A. Eosinophilia: a pragmatic approach to diagnosis and treatment. Hematology Am Soc Hematol Educ Program 2015: 92
  3. Reiter and Gotlib. Myeloid neoplasms with eosinophilia. Blood 2017;129:704
  4. Reiter et al. How I diagnose and treat myeloid/lymphoid neoplasms with tyrosine kinase gene fusions. Blood 2025;145:1758
  5. Klion A. How I treat hypereosinophilic syndromes. Blood 2015;126:1069
  6. Bain B. Eosinophilic leukemia and idiopathic hypereosinophilic syndrome are mutually exclusive diagnoses. Blood 2004;104:3836
  7. Cools et al. A Tyrosine Kinase Created by Fusion of the PDGFRA and FIP1L1 Genes as a Therapeutic Target of Imatinib in Idiopathic Hypereosinophilic Syndrome.  NEJM 2003;348:1201
  8. Pardanani et al. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood 2004;104:3038
  9. David et al. Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders. Blood 2007;109:61
  10. Cheah et al. Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib. Blood 2014;123:3574
  11. Jovanovic et al. Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA–positive chronic eosinophilic leukemia. Blood 2007;109:4635
  12. Klion et al. Relapse following discontinuation of imatinib mesylate therapy for FIP1L1/PDGFRA-positive chronic eosinophilic leukemia: implications for optimal dosing. Blood 2007;110:3552
  13. Rothenberg et al. Treatment of patients with the hypereosinophilic syndrome with mepolizumab. NEJM 2008;358:1215
  14. Kuang et al. Benralizumab for PDGFRA-Negative Hypereosinophilic Syndrome. NEJM 2019;380:1336
  15. Panch et al. Dexpramipexole as an oral steroid-sparing agent in hypereosinophilic syndromes. Blood 2018;132:501
  16. Patel et al. JAK2ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera. Blood 2019;134:2388
  17. Dellon et al. Dupilumab in Adults and Adolescents with Eosinophilic Esophagitis. NEJM 2022;387:2317
  18. Dou et al. Hematopoietic and eosinophil-specific LNK(SH2B3) deficiency promotes eosinophilia and arterial thrombosis.  Blood 2024;143:1758
  19. Groh et al. Involvement of the JAK-STAT pathway in the molecular landscape of tyrosine kinase fusion-negative hypereosinophilic syndromes: A nationwide CEREO study. Am J Hematol 2024;99:1108

Mastocytosis

  1. Veitch and Radia. Mastocytosis demystified. Hematology Am Soc Hematol Educ Program (2023): 396
  2. Reiter et al. New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis. Blood 2020;135:1365
  3. Valent et al. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood 2017;129:1420
  4. Theoharides et al. Mast cells, mastocytosis, and related disorders. NEJM 2015;373:163
  5. Pardanani et al. Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models. Blood Adv 2018;2:2964
  6. Muñoz-González et al. Proposed global prognostic score for systemic mastocytosis: a retrospective prognostic modelling study. Lancet Haematol 2021;8:e194
  7. Radia D. How I diagnose and treat systemic mastocytosis with an associated hematologic neoplasm. Blood 2025;145:1747
  8. Lim et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 2009;113:5727
  9. Gotlib et al. International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) & European Competence Network on Mastocytosis (ECNM) consensus response criteria in advanced systemic mastocytosis. Blood 2013;121:2393
  10. Pardanani et al. Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignancies. Blood 2009;114:3769(Mast cell disease is a clinically heterogeneous set of conditions)
  11. Muñoz-González et al. Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis. Blood 2019;134:456
  12. Greiner et al. Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis. Blood 2021;137:238(Hereditary overproduction of tryptase + mastocytosis = more severe disease)
  13. Georgin-Lavialle et al. Mast cell leukemia. Blood 2013;121:1285
  14. Kluin-Nelemans et al.  Cladribine therapy for systemic mastocytosis,  Blood 2003;102:4270
  15. Barete et al. Long-term efficacy and safety of cladribine (2-CdA) in adult patients with mastocytosis. Blood 2015;126:1009
  16. Ustun et al. Hematopoietic Stem-Cell Transplantation for Advanced Systemic Mastocytosis. J Clin Oncol 2014;32:3264(3-yr OS 57% in this retrospective study)
  17. Shah et al. Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. Blood 2006;108:286
  18. Gotlib et al. Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. NEJM 2016;374:2530
  19. Jawhar et al. Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. Blood 2017;130:137(Reduced burden of mutated KIT alleles an independent predictor of benefit)
  20. Lübke et al. Superior Efficacy of Midostaurin Over Cladribine in Advanced Systemic Mastocytosis: A Registry-Based Analysis. J Clin Oncol 2022;40:1783
  21. Blatt et al. Identification of the Ki-1 antigen (CD30) as a novel therapeutic target in systemic mastocytosis. Blood 2015;126:2832
  22. Schwaab et al. Comprehensive mutational profiling in advanced systemic mastocytosis. Blood 2013;122:2460
  23. Lortholary et al. Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. Lancet 2017;389:612
  24. Rapid responses to Avapritinib (BLU-285) in mastocytosis. Cancer Discov 2018;8:133
  25. Gilreath et al. Novel approaches to treating advanced systemic mastocytosis. Clin Pharmacol 2019;11:77 (Avapritinib)
  26. DeAngelo et al. Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial. Nat Med 2021;27:2183
  27. Gotlib et al. Avapritinib for advanced systemic mastocytosis. Blood 2022;140:1667
  28. Gotlib et al. Avapritinib versus Placebo in Indolent Systemic Mastocytosis. NEJM Evid 2023 (Epub)
  29. Akin et al. Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with “idiopathic” anaphylaxis. Blood 2007;110:2331
  30. Valent et al. The serum tryptase test: an emerging robust biomarker in clinical hematology. Expert Rev Clin Hematol 2014;7:683

Chronic neutrophilic leukemia and related disorders

  1. Maxson and Tyner. Genomics of chronic neutrophilic leukemia. Blood 2017;129:715
  2. Maxson et al. Oncogenic CSF3R Mutations in Chronic Neutrophilic Leukemia and Atypical CML. NEJM 2013;368:1781
  3. Gotlib et al. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. Blood 2013;122:1707
  4. Zhang et al. Genomic landscape of neutrophilic leukemias of ambiguous diagnosis. Blood 2019;134:867
  5. Dao et al. Efficacy of Ruxolitinib in Patients With Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia. J Clin Oncol 202o:1006