Myeloproliferative neoplasms 2012: The John M. Bennett 80th birthday anniversary lecture

Leukemia Research

Volumn 36, Issue 12, 2012, Pages 1481-1489

  Tefferi, Ayalew ^a  

^a MAYO CLINIC   (United States)

Author keywords

Myelodysplastic syndromes (MDS); Myeloproliferative neoplasms (MPN)

Indexed keywords

ACETYLSALICYLIC ACID; ALPHA INTERFERON; ANAGRELIDE; ANDROGEN; BUSULFAN; DANAZOL; HYDROXYUREA; IMMUNOMODULATING AGENT; JANUS KINASE INHIBITOR; LENALIDOMIDE; MOMELOTINIB; N TERT BUTYL 3 [5 METHYL 2 [4 [2 (1 PYRROLIDINYL)ETHOXY]PHENYLAMINO] 4 PYRIMIDINYLAMINO]BENZENESULFONAMIDE; PAROXETINE; PEGINTERFERON ALPHA; PIPOBROMAN; PLACEBO; POMALIDOMIDE; PREDNISONE; RUXOLITINIB; THALIDOMIDE;

ALLOGENEIC STEM CELL TRANSPLANTATION; ANEMIA; CYTOGENETICS; DIZZINESS; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; GENE MUTATION; HEADACHE; HISTOPATHOLOGY; HUMAN; HYPOTENSION; INTERNATIONAL PROGNOSTIC SCORING SYSTEM; JAK2 GENE; LEUKEMOGENESIS; LOW DRUG DOSE; MPL GENE; MYELOID METAPLASIA; MYELOPROLIFERATIVE NEOPLASM; PAIN; PERIPHERAL NEUROPATHY; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROGNOSIS; PRURITUS; REVIEW; SENSORY NEUROPATHY; SIDE EFFECT; THORAX PAIN; THROMBOCYTHEMIA; THROMBOCYTOPENIA; THROMBOSIS; TRIACYLGLYCEROL LIPASE BLOOD LEVEL; ULTRAVIOLET B RADIATION;

ANTINEOPLASTIC AGENTS; CYTOGENETIC ANALYSIS; FUSION PROTEINS, BCR-ABL; HUMANS; IMMUNOLOGIC FACTORS; JANUS KINASE 2; MUTATION; POLYCYTHEMIA VERA; PRIMARY MYELOFIBROSIS; PROTEIN KINASE INHIBITORS; RECEPTORS, THROMBOPOIETIN; THROMBOCYTHEMIA, ESSENTIAL;

EID: 84868193850     PISSN: 01452126     EISSN: 18735835     Source Type: Journal    
DOI: 10.1016/j.leukres.2012.08.011     Document Type: Review

References (95)

1. Vardiman J.W., Thiele J., Arber D.A., et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009, 114:937-951.
2. Tefferi A., Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008, 22:14-22.
3. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010, 24:1128-1138.
4. Atallah E., Nussenzveig R., Yin C.C., et al. Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis. Leukemia 2008, 22:1295-1298.
5. Patnaik M.M., Lasho T.L., Hodnefield J.M., et al. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. Blood 2012, 119:569-572.
6. Malcovati L., Papaemmanuil E., Bowen D.T., et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood 2011, 118:6239-6246.
7. Papaemmanuil E., Cazzola M., Boultwood J., et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011, 365:1384-1395.
8. Lasho T.L., Finke C.M., Hanson C.A., et al. SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients. Leukemia 2012, 26(5):1135-1137.
9. Thiele J. Philadelphia chromosome-negative chronic myeloproliferative disease. Am J Clin Pathol 2009, 132:261-280.
10. Thiele J., Kvasnicka H.M., Vardiman J.W., et al. Bone marrow fibrosis and diagnosis of essential thrombocythemia. J Clin Oncol 2009, 27:e220-e221. [author reply e222-3].
11. Kvasnicka H.M., Thiele J. Prodromal myeloproliferative neoplasms: the 2008 WHO classification. Am J Hematol 2010, 85:62-69.
12. Barbui T., Thiele J., Passamonti F., et al. Initial bone marrow reticulin fibrosis in polycythemia vera exerts an impact on clinical outcome. Blood 2012, 119(10):2239-2241.
13. Barbui T., Thiele J., Passamonti F., et al. Survival and disease progression in essential thrombocythemia are significantly influenced by accurate morphologic diagnosis: an international study. J Clin Oncol 2011, 29:3179-3184.
14. Hussein K., Huang J., Lasho T., et al. Karyotype complements the International Prognostic Scoring System for primary myelofibrosis. Eur J Haematol 2009, 82:255-259.
15. Gangat N., Strand J., Lasho T.L., et al. Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates. Eur J Haematol 2008, 80:197-200.
16. Gangat N., Tefferi A., Thanarajasingam G., et al. Cytogenetic abnormalities in essential thrombocythemia: prevalence and prognostic significance. Eur J Haematol 2009, 83:17-21.
17. Bacher U., Schnittger S., Kern W., Weiss T., Haferlach T., Haferlach C. Distribution of cytogenetic abnormalities in myelodysplastic syndromes. Philadelphia negative myeloproliferative neoplasms, and the overlap MDS/MPN category. Ann Hematol 2009, 88:1207-1213.
18. Tefferi A., Jimma T., Gangat N., et al. Predictors of greater than 80% 2-year mortality in primary myelofibrosis: a Mayo Clinic study of 884 karyotypically annotated patients. Blood 2011, 118:4595-4598.
19. Hussein K., Pardanani A.D., Van Dyke D.L., Hanson C.A., Tefferi A. International Prognostic Scoring System-independent cytogenetic risk categorization in primary myelofibrosis. Blood 2010, 115:496-499.
20. Tefferi A., Rumi E., Finazzi G., et al. Survival and prognosis among 1,263 patients with polycythemia vera: an international study. ASH Annual Meeting Abstracts 2011, 118:277.
21. Caramazza D., Begna K.H., Gangat N., et al. Refined cytogenetic-risk categorization for overall and leukemia-free survival in primary myelofibrosis: a single center study of 433 patients. Leukemia 2011, 25:82-88.
22. Vaidya R., Caramazza D., Begna K.H., et al. Monosomal karyotype in primary myelofibrosis is detrimental to both overall and leukemia-free survival. Blood 2011, 117:5612-5615.
23. Pardanani A., Lasho T.L., Finke C., Hanson C.A., Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 2007, 21:1960-1963.
24. Vannucchi A.M., Antonioli E., Guglielmelli P., Pardanani A., Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia 2008, 22:1299-1307.
25. Lasho T.L., Pardanani A., Tefferi A. LNK mutations in JAK2 mutation-negative erythrocytosis. N Engl J Med 2010, 363:1189-1190.
26. Carobbio A., Thiele J., Passamonti F., et al. Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients. Blood 2011, 117:5857-5859.
27. Passamonti F., Rumi E., Pietra D., et al. 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 2010, 24:1574-1579.
28. Tefferi A., Lasho T.L., Huang J., et al. 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 2008, 22:756-761.
29. Guglielmelli P., Barosi G., Specchia G., et al. Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood 2009, 114:1477-1483.
30. Passamonti F., Elena C., Schnittger S., et al. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood 2011, 117:2813-2816.
31. Abdel-Wahab O., Pardanani A., Patel J., et al. Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. Leukemia 2011, 25:1200-1202.
32. Abdel-Wahab O., Pardanani A., Rampal R., Lasho T.L., Levine R.L., Tefferi A. DNMT3A mutational analysis in primary myelofibrosis, chronic myelomonocytic leukemia and advanced phases of myeloproliferative neoplasms. Leukemia 2011, 25:1219-1220.
33. Tefferi A., Jimma T., Sulai N.H., et al. IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2V617F. Leukemia 2012, 26(3):475-480.
34. Guglielmelli P., Biamonte F., Score J., et al. EZH2 mutational status predicts poor survival in myelofibrosis. Blood 2011, 118:5227-5234.
35. Tefferi A., Thiele J., Orazi A., 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, 110:1092-1097.
36. Tefferi A., Sirhan S., Lasho T.L., et al. Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol 2005, 131:166-171.
37. James C., Delhommeau F., Marzac C., et al. Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia 2006, 20:350-353.
38. Mossuz P., Girodon F., Donnard M., et al. Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. Haematologica 2004, 89:1194-1198.
39. Schmitt-Graeff A.H., Teo S.S., Olschewski M., et al. JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica 2008, 93:34-40.
40. Michiels J.J., Berneman Z., Schroyens W., et al. Philadelphia (Ph) chromosome-positive thrombocythemia without features of chronic myeloid leukemia in peripheral blood: natural history and diagnostic differentiation from Ph-negative essential thrombocythemia. Ann Hematol 2004, 83:504-512.
41. Pietra D., Li S., Brisci A., et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 2008, 111:1686-1689.
42. Pardanani A.D., Levine R.L., Lasho T., et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006, 108:3472-3476.
43. Martinaud C., Brisou P., Mozziconacci M.J. Is the JAK2(V617F) mutation detectable in healthy volunteers?. Am J Hematol 2010, 85:287-288.
44. Scott L.M., Scott M.A., Campbell P.J., Green A.R. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006, 108:2435-2437.
45. Quintas-Cardama A., Kantarjian H., Manshouri T., 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, 27:5418-5424.
46. Quintas-Cardama A., Kantarjian H.M., Manshouri T., et al. Lenalidomide plus prednisone results in durable clinical, histopathologic, and molecular responses in patients with myelofibrosis. J Clin Oncol 2009, 27:4760-4766.
47. Tefferi A., Lasho T.L., Mesa R.A., Pardanani A., Ketterling R.P., Hanson C.A. Lenalidomide therapy in del(5)(q31)-associated myelofibrosis: cytogenetic and JAK2V617F molecular remissions. Leukemia 2007, 21:1827-1828.
48. Kroger N., Badbaran A., Holler E., et al. Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood 2007, 109:1316-1321.
49. Larsen T.S., Pallisgaard N., Moller M.B., Hasselbalch H.C. Quantitative assessment of the JAK2 V617F allele burden: equivalent levels in peripheral blood and bone marrow. Leukemia 2008, 22:194-195.
50. Wolanskyj A.P., Schwager S.M., McClure R.F., Larson D.R., Tefferi A. Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. Mayo Clin Proc 2006, 81:159-166.
51. Cervantes F., Dupriez B., Pereira A., 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, 113:2895-2901.
52. Gangat N., Strand J., Li C.Y., Wu W., Pardanani A., Tefferi A. Leucocytosis in polycythaemia vera predicts both inferior survival and leukaemic transformation. Br J Haematol 2007, 138:354-358.
53. Passamonti F., Rumi E., Pungolino E., et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med 2004, 117:755-761.
54. Gangat N., Wolanskyj A.P., McClure R.F., et al. Risk stratification for survival and leukemic transformation in essential thrombocythemia: a single institutional study of 605 patients. Leukemia 2007, 21:270-276.
55. Passamonti F., Rumi E., Arcaini L., et al. Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica 2008, 93:1645-1651.
56. Gangat N., Caramazza D., Vaidya R., et al. DIPSS plus: a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status. J Clin Oncol 2011, 29:392-397.
57. Passamonti F., Thiele J., Barbui T., et al. A prognostic model to predict survival in WHO-defined essential thrombocythemia: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). ASH Annual Meeting Abstracts 2011, 118:1746.
58. Tefferi A., Pardanani A., Gangat N., et al. Leukemia risk models in primary myelofibrosis: an International Working Group study. Leukemia 2012, 26(6):1439-1441.
59. Finazzi G., Carobbio A., Thiele J., et al. Incidence and risk factors for bleeding in 1104 patients with essential thrombocythemia or prefibrotic myelofibrosis diagnosed according to the 2008 WHO criteria. Leukemia 2012, 26(4):716-719.
60. Michiels J.J., Berneman Z., Schroyens W., Finazzi G., Budde U., van Vliet H.H. The paradox of platelet activation and impaired function: platelet-von Willebrand factor interactions, and the etiology of thrombotic and hemorrhagic manifestations in essential thrombocythemia and polycythemia vera. Semin Thromb Hemost 2006, 32:589-604.
61. Michiels J.J., Berneman Z., Schroyens W., et al. Platelet-mediated erythromelalgic, cerebral, ocular and coronary microvascular ischemic and thrombotic manifestations in patients with essential thrombocythemia and polycythemia vera: a distinct aspirin-responsive and coumadin-resistant arterial thrombophilia. Platelets 2006, 17:528-544.
62. Passamonti F., Rumi E., Randi M.L., Morra E., Cazzola M. Aspirin in pregnant patients with essential thrombocythemia: a retrospective analysis of 129 pregnancies. J Thromb Haemost 2010, 8:411-413.
63. Gangat N., Wolanskyj A.P., Schwager S., Tefferi A. Predictors of pregnancy outcome in essential thrombocythemia: a single institution study of 63 pregnancies. Eur J Haematol 2009, 82:350-353.
64. Niittyvuopio R., Juvonen E., Kaaja R., et al. Pregnancy in essential thrombocythaemia: experience with 40 pregnancies. Eur J Haematol 2004, 73:431-436.
65. Tefferi A., Fonseca R. Selective serotonin reuptake inhibitors are effective in the treatment of polycythemia vera-associated pruritus. Blood 2002, 99:2627.
66. Pardanani A., Vannucchi A.M., Passamonti F., Cervantes F., Barbui T., Tefferi A. JAK inhibitor therapy for myelofibrosis: critical assessment of value and limitations. Leukemia 2011, 25:218-225.
67. Muller E.W., de Wolf J.T., Egger R., et al. Long-term treatment with interferon-alpha 2b for severe pruritus in patients with polycythaemia vera. Br J Haematol 1995, 89:313-318.
68. Baldo A., Sammarco E., Plaitano R., Martinelli V., Monfrecola Narrowband (TL-01) ultraviolet B phototherapy for pruritus in polycythaemia vera. Br J Dermatol 2002, 147:979-981.
69. Chievitz E., Thiede T. Complications and causes of death in polycythemia vera. Acta Med Scand 1962, 172:513-523.
70. Di Nisio M., Barbui T., Di Gennaro L., et al. The haematocrit and platelet target in polycythemia vera. Br J Haematol 2007, 136:249-259.
71. Crisa E., Venturino E., Passera R., et al. A retrospective study on 226 polycythemia vera patients: impact of median hematocrit value on clinical outcomes and survival improvement with anti-thrombotic prophylaxis and non-alkylating drugs. Ann Hematol 2010, 89:691-699.
72. Finazzi G. A prospective analysis of thrombotic events in the European collaboration study on low-dose aspirin in polycythemia (ECLAP). Pathol Biol (Paris) 2004, 52:285-288.
73. Landolfi R., Marchioli R., Kutti J., et al. Efficacy and safety of low-dose aspirin in polycythemia vera. N Engl J Med 2004, 350:114-124.
74. Berk P.D., Goldberg J.D., Silverstein M.N., et al. Increased incidence of acute leukemia in polycythemia vera associated with chlorambucil therapy. N Engl J Med 1981, 304:441-447.
75. Cortelazzo S., Finazzi G., Ruggeri M., et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. N Engl J Med 1995, 332:1132-1136.
76. Harrison C.N., Campbell P.J., Buck G., et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med 2005, 353:33-45.
77. Kiladjian J.J., Chevret S., Dosquet C., Chomienne C., Rain J.D. Treatment of polycythemia vera with hydroxyurea and pipobroman: final results of a randomized trial initiated in 1980. J Clin Oncol 2011, 29:3907-3913.
78. Messinezy M., Pearson T.C., Prochazka A., Wetherley-Mein G. Treatment of primary proliferative polycythaemia by venesection and low dose busulphan: retrospective study from one centre. Br J Haematol 1985, 61:657-666.
79. D'Emilio A., Battista R., Dini E. Treatment of primary proliferative polycythaemia by venesection and busulphan. Br J Haematol 1987, 65:121-122.
80. Shvidel L., Sigler E., Haran M., et al. Busulphan is safe and efficient treatment in elderly patients with essential thrombocythemia. Leukemia 2007, 21:2071-2072.
81. Kiladjian J.J., Cassinat B., Chevret S., et al. Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood 2008, 112:3065-3072.
82. Finazzi G., Caruso V., Marchioli R., et al. Acute leukemia in polycythemia vera. An analysis of 1,638 patients enrolled in a prospective observational study. Blood 2005, 105:2664-2670.
83. Gangat N., Caramazza D., Vaidya R., et al. DIPSS plus: a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status. J Clin Oncol 2011, 29(4):392-397.
84. Ballen K.K., Shrestha S., Sobocinski K.A., et al. Outcome of transplantation for myelofibrosis. Biol Blood Marrow Transplant 2009, 16(3):358-367.
85. Tefferi A. Challenges facing JAK inhibitor therapy for myeloproliferative neoplasms. N Engl J Med 2012, 366:844-846.
86. Tefferi A. JAK inhibitors for myeloproliferative neoplasms: clarifying facts from myths. Blood 2012, 119(12):2721-2730.
87. Tefferi A., Verstovsek S., Barosi G., et al. Pomalidomide is active in the treatment of anemia associated with myelofibrosis. J Clin Oncol 2009, 27(27):4563-4569.
88. Begna KH, Mesa RA, Pardanani A, et al. A phase-2 trial of low-dose pomalidomide in myelofibrosis with anemia. Leukemia; in press.
89. Verstovsek S., Mesa R.A., Gotlib J., et al. A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis. N Engl J Med 2012, 366:799-807.
90. Harrison C., Kiladjian J.J., Al-Ali H.K., et al. JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis. N Engl J Med 2012, 366:787-798.
91. Pardanani A., Gotlib J.R., Jamieson C., et al. Safety and efficacy of TG101348, a selective JAK2 inhibitor, in myelofibrosis. J Clin Oncol 2011, 29:789-796.
92. Pardanani A., Gotlib J., Jamieson C., et al. SAR302503: interim safety, efficacy and long-term impact on JAK2 V617F allele burden in a phase I/II study in patients with myelofibrosis. Blood 2011, 118(21):1640.
93. Tefferi A., Barosi G., Mesa R.A., et al. International Working Group (IWG) consensus criteria for treatment response in myelofibrosis with myeloid metaplasia, for the IWG for Myelofibrosis Research and Treatment (IWG-MRT). Blood 2006, 108:1497-1503.
94. Pardanani A.D., Caramazza D., George G., et al. Safety and efficacy of CYT387, a JAK-1/2 inhibitor, for the treatment of myelofibrosis. J Clin Oncol 2011, 29. [abstract #6514].
95. Tefferi A. How I treat myelofibrosis. Blood 2011, 117:3494-3504.