Savremeni pristup u dijagnozi i lečenju primarne mijelofibroze
Sažetak
Primarna mijelofibroza (PMF) je retka hronična mijeloproliferativna neoplazma (MPN). PMF je rezultat klonske ekspanzije mijeloidnih ćelija i odlikuje se varijabilnim prisustvom mutacija, morfološki povećanom proliferacijom megakariocita, progresivnom fibrozom koštane srži, hepatosplenomegalijom, anemijom, leukoeritroblastozom, konstitucionalnim simptomima i kraćim preživljavanjem. Svetska zdravstvena organizacija je 2016. definisala trenutne dijagnostičke kriterijume za PMF, koji uključuju kombinovanu procenu kliničkih, histoloških, mutacionih i laboratorijskih karakteristika bolesti. Nedavno, nekoliko novih prognostičkih skoring sistema za PMF su počeli da se koriste, koji se zasnivaju isključivo na genetskim markerima ili uključuju kliničke promenljive pored mutacija i kariotipa. U lečenju mijelofibroze primenjuje se terapija prilagođena riziku, što podrazumeva izbor vrste terapije prema kategoriji rizika dobijenoj izračunavanjem važećih prognostičkih skoring sistema. Alogena transplantacija matičnih ćelija ostala je jedina potencijalno kurativna terapija za lečenje PMF, ali je pogodna za mali broj visoko rizičnih pacijenata koji imaju podudarnog davaoca. U poslednjoj deceniji, razvoj i odobravanje ruksolitiniba za lečenje PMF bilo je od najveće važnosti u tretmanu ove bolesti, iako je to palijativna terapija. Ruksolitinib je snažan JAK1/JAK2 inhibitor koji dovodi do smanjenja splenomegalije i simptoma, i produžava ukupno preživljavanje kod pacijenata sa ovom bolešću.
Reference
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz M, Le Beau M, et al. The 2016 revision to the World Health Organization classification of myeloid neo-plasms and acute leukemia. Blood 2016;127:2391-405. [CrossRef] [PubMed]
Ballen KK, Shrestha S, Sobocinski KA, Zhang MJ, Bashey A, Bolwell BJ, et al. Outcome of transplanta-tion for myelofibrosis. Biol Blood Marrow Transplant 2010;16:358-67. [CrossRef] [PubMed]
Barbui T, Tefferi A, Vannucchi A, Passamonti F, Silver R, Hoffman R. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised mana-gement recommendations from European Leukemia Net. Leukemia 2018;32:1057-69. [CrossRef] [PubMed]
Barbui T, Thiele J, Gisslinger H, Kvasnicka H, Vannucchi A, Guglielmelli P, et al. The 2016 WHO classification and diagnosis criteria for myeloprolife-rative neoplasms document summery and depth dis-cussion. Blood Cancer J 2018;15:1-11. [CrossRef] [PubMed]
Barosi G, Birgegard G, Finazzi G, Griesshammer M, Harrison C, Hasselbalch H, et al. A unified definition of clinical resistance and intolerance to hydroxycarba-mide in polycythaemia vera and primary myelofibro-sis: results of a European LeukaemiaNet (ELN) con-sensus process. Br J Haematol 2010;148:961-3. [CrossRef] [PubMed]
Brecqueville M, Rey J, Bertucci F, Coppin E, Finetti P, Carbuccia N, et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer 2012;51:743-55. [CrossRef] [PubMed]
Cervantes F, Alvarez-Larran A, Domingo A, Arellano-Rodrigo E, Montserrat E. Efficacy and tolerability of danazol as a treatment for the anaemia of myelo-fibrosis with myeloid metaplasia: long-term results in 30 patients. Br J Haematol 2005;129:771-5. [CrossRef] [PubMed]
Cervantes F, Alvarez-Larran A, Hernandez-Boluda J, Sureda A, Torrebadell M, Montserrat E. Erythropoietin treatment of the anaemia of myelofibrosis with mye-loid metaplasia: results in 20 patients and review of the literature. Br J Haematol 2004;127:399-403. [CrossRef] [PubMed]
Cervantes F, Dupriez B, Pereira A, Passamonti F, Reilly JT, Morra E, 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;113:2895-901. [CrossRef] [PubMed]
Cervantes F, Hernandez-Boluda JC, Alvarez A, Nadal E, Montserrat E. Danazol treatment of idiopathic mye-lofibrosis with severe anaemia. Haematologica 2000; 85:595-9. [PubMed]
Cervantes F, Vannucchi AM, Kiladjian JJ, Al-Ali HK, Sirulnik A, Stalbovskaya V, et al. Three-year efficacy, safety, and survival findings from COMFORT-II, a phase 3 study comparing ruxolitinib with best avail-able therapy for myelofibrosis. Blood 2013;122:4047-53. [CrossRef] [PubMed]
Gangat N, Caramazza D, Vaidya R, George G, Begna K, Schwager S, 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;29:392-7. [CrossRef] [PubMed]
Grinfeld J, Nangalia J, Baxter J, Wedge D, Angelopoulos N, Cantrill R, et al. Classification and personalized prognosis in myeloproliferative neo-plasms. NEJM 2018;379:1416-30. [CrossRef] [PubMed]
Grinfeld J. Prognostic models in the myeloproliferative neoplasms. Blood Reviews 2020;42. [CrossRef] [PubMed]
Guglielmelli P, Lasho TL, Rotunno G, Mudireddy M, Mannarelli C, Nicolosi M, et al. MIPSS70: mutation-enhanced international prognostic score system for transplantation-age patients with primary myelofibro-sis. J Clin Oncol 2018;36:310-8. [CrossRef] [PubMed]
Guglielmelli P, Lasho TL, Rotunno G, Score J, Mannarelli C, Pancrazzi A, et al. The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients. Leukemia 2014;28:1804-10. [CrossRef] [PubMed]
Harrison C, Kiladjian JJ, Al-Ali HK, Gisslinger H, Waltzman R, Stalbovskaya V, et al. JAK inhibition with ruxolitinib versus best available therapy for myelo-fibrosis. N Engl J Med 2012;366:787-98. [CrossRef] [PubMed]
Harrison CN, Schaap N, Vannucchi AM, Kiladjian JJ, Tiu RV, Zachee P, et al. Janus kinase-2 inhibitor fedratinib in patients with myelofibrosis previously treated with ruxolitinib (JAKARTA-2): a single-arm, open-label, non-randomised, phase 2, multicentre study. Lancet Haematol 2017;4:317-24. [CrossRef] [PubMed]
Hasselbalch HC, Holmstrom MO. Perspectives on interferon-alpha in the treatment of polycythemia vera and related myeloproliferative neoplasms: minimal residual disease and cure? Semin Immunopathol 2019;41:5-19. [CrossRef] [PubMed]
Ianotto JC, Boyer-Perrard F, Gyan E, Laribi K, Cony-Makhoul P, Demory JL, et al. Efficacy and safety of pegylated-interferon α-2a in myelofibrosis: a study by the FIM and GEM French cooperative groups. Br J Haematol 2013;162:783-91. [CrossRef] [PubMed]
Ianotto JC, Chauveau A, Boyer-Perrard F, Gyan E, Laribi K, Cony-Makhoul P, et al. Benefits and pitfalls of pegylated interferon-α2a therapy in patients with myeloproliferative neoplasm-associated myelofibrosis: a French Intergroup of Myeloproliferative neoplasms (FIM) study. Haematologica 2018;103:438-46. [CrossRef] [PubMed]
Jeryczynski G, Thiele J, Gisslinger B, Wolfler A, Schalling M, Gleis A, et al. Prefibrotic/early primary myelofibrosis vs. WHO-defined essential thrombocy-themia: the impact of minor clinical diagnostic criteria on the outcome of the disease. Am J Hematol 2017; 92:885-91. [CrossRef] [PubMed]
Kroger NM, Deeg JH, Olavarria E, Niederwieser D, Bacigalupo A, Barbui T, et al. Indication and mana-gement of allogeneic stem cell transplantation in primary myelofibrosis: a consensus process by an EBMT/ELN international working group. Leukemia 2015;29:2126-33. [CrossRef] [PubMed]
Kvasnicka HM, Thiele J. Prodromal myeloproliferative neoplasms: the 2008 WHO classification. Am J Hema-tol 2010;85:62-96. [CrossRef] [PubMed]
Levine RL, Gilliland DG. Myeloproliferative disorders. Blood 2008;112(6):2190-8. [CrossRef] [PubMed]
Martinez-Trillos A, Gaya A, Maffioli M, Arellano-Rodrigo E, Calvo X, Diaz-Beya M, et al. Efficacy and tolerability of hydroxyurea in the treatment of the hyperpro-liferative manifestations of myelofibrosis: results in 40 patients. Ann Hematol 2010;89:1233-7. [CrossRef] [PubMed]
Mascarenhas J, Hoffman R, Talpaz M, Gerds AT, Stein B, Gupta V, et al. Pacritinib vs best available therapy, including ruxolitinib, in patients with myelo-fibrosis. JAMA Oncol 2018;e175818. [CrossRef] [PubMed]
McLornan DP, Yakoub-Agha I, Robin M, Chalandon Y, Harrison CN, Kroger N. State-of-the-art review: allo-geneic stem cell transplantation for myelofibrosis in 2019. Haematologica 2019;104:659-68. [CrossRef] [PubMed]
Mesa R, Steensma D, Pardanani A, Li CY, Elliott M, Kaufmann S, et al. A phase 2 trial of combination low-dose thalidomide and prednisone for the treatment of myelofibrosis with myeloid metaplasia. Blood 2003; 101:2534-41. [CrossRef] [PubMed]
Mesa RA, Kiladjian JJ, Catalano JV, Devos T, Egyed M, Hellmann A, et al. SIMPLIFY-1: a phase III ran-domized trial of momelotinib versus ruxolitinib in janus kinase inhibitor-naive patients with myelofibro-sis. J Clin Oncol 2017;35:3844-50. [CrossRef] [PubMed]
Mudireddy M, Shah S, Lasho T, Baracco D, Hanson C, Ketterling R, et al. Prefibrotic versus overtly fibrotic primary myelofibrosis: clinical, cytogenetic, molecular, and prognostic comparisons. Br J Haematol 2017; 182(4):594-7. [CrossRef] [PubMed]
Nicolosi M, Mudireddy M, Lasho TL, Hanson C, Ketterling R, Gangatet N, et al. Sex and degree of severity influence the prognostic impact of anemia in primary myelofibrosis: analysis based on 1109 con-secutive patients. Leukemia 2018;32:1254-8. [CrossRef] [PubMed]
Passamonti F, Cervantes F, Vannucchi AM, Morra E, Rumi E, Pereira A, et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myelo-proliferative Neoplasms Research and Treatment). Blood 2010;115:1703-8. [CrossRef] [PubMed]
Quintas-Cardama A, Kantarjian HM, Manshouri T, Thomas D, Cortes J, Ravandi F, et al. Lenalidomide plus prednisone results in durable clinical, histopatho-logic, and molecular responses in patients with mye-lofibrosis. J Clin Oncol 2009;27:4760-6. [CrossRef] [PubMed]
Reilly JT, McMullin MF, Beer PA, Butt N, Conneally E, Duncombe A, et al. Guideline for the diagnosis and management of myelofibrosis. Br J Haematol 2012; 158:453-71. [CrossRef] [PubMed]
Rumi E, Pietra D, Pascutto C, Guglielmelli P, Martinez-Trillos A, Casetti I, et al. Clinical effect of driver muta-tions of JAK2, CALR, or MPL in primary myelofibrosis. Blood 2014;124:1062-9. [CrossRef] [PubMed]
Samuelson BT, Salit RB, Storer BE, Stevens E, Wu D, Yeunget C, et al. Hematopoietic cell transplantation for myelofibrosis: the dynamic international prognostic scoring system plus risk predicts post-transplant out-comes. Biol Blood Marrow Transplant 2018;24:386-92. [CrossRef] [PubMed]
Spivak J, Hasselbach H. Hydroxycarbamide: a user's guide for chronic myeloproliferative disorders. Expert Rev Anticancer Ther 2011;11:403-14. [CrossRef] [PubMed]
Tefferi A, Cervantes F, Mesa R, Passamonti F, Verstovsek S, Vennucchi A, et al. Revised response criteria for myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. Blood 2013;122:1395-8. [CrossRef] [PubMed]
Tefferi A, Cortes J, Verstovsek S, Mesa R, Thomas D, Lasho T, et al. Lenalidomide therapy in myelofibrosis with myeloid metaplasia. Blood 2006;108:1158-64. [CrossRef] [PubMed]
Tefferi A, Elliot MA, Yoon SY, Li CY, Mesa RA, Call TG, et al. Clinical and bone marrow effects interferon alfa therapy in myelofibrosis with myeloid metaplasia. Blood 2001;97:1896-7. [CrossRef] [PubMed]
Tefferi A, Finke CM, Lasho TL, Hanson CA, Ketterling RP, Gangat N, et al. U2AF1 mutation types in primary myelofibrosis: phenotypic and prognostic distinctions. Leukemia 2018;32:2274-8. [CrossRef] [PubMed]
Tefferi A, Finke CM, Lasho TL, Wassie EA, Knudson R, Ketterling RP, et al. U2AF1 mutations in primary myelofibrosis are strongly associated with anemia and thrombocytopenia despite clustering with JAK2V617F and normal karyotype. Leukemia 2014;28:431-3.[CrossRef] [PubMed]
Tefferi A, Guglielmelli P, Larson DR, Finke C, Wassie EA, Pieri L, et al. Long-term survival, and blast trans-formation in molecularly annotated essential thrombo-cythemia, polycythemia vera, and myelofibrosis. Blood 2014;124:2507-13. [CrossRef] [PubMed]
Tefferi A, Guglielmelli P, Lasho TL, Gangat N, Ketterling RP, Pardanani A, et al. MIPSS70+ version 2.0: mutation and karyotype-enhanced international prognostic scoring system for primary myelofibrosis. J Clin Oncol 2018;36:1769-70. [CrossRef] [PubMed]
Tefferi A, Guglielmelli P, Nicolosi M, Mannelli F, Mudireddy M, Bartalucci N, et al. GIPSS: genetically inspired prognostic scoring system for primary myelo-fibrosis. Leukemia 2018;32:1631-42. [CrossRef] [PubMed]
Tefferi A, Guglielmelli P, Pardanani A, Vannucchi A. Myelofibrosis treatment algoritham 2018. Blood Cancer Journal 2018; 72:1-7. [CrossRef] [PubMed]
Tefferi A, Lasho TL, Finke CM, Knudson RA, Ketterling R, Hanson CH, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic, and molecular comparisons. Leukemia 2014;28:1472-7. [CrossRef] [PubMed]
Tefferi A, Mesa R, Nagorney D, Schroeder G, Silverstein M. Splenectomy in myelofibrosis with myeloid metaplasia: a single-institution experience with 223 patients. Blood 2000;95:2226-33. [CrossRef] [PubMed]
Tefferi A, Mudireddy M, Gangat N, Hanson C, Ketterling R, Pardananiet A, et al. Risk factors and a prognostic model for postsplenectomy survival in myelofibrosis. Am J Hematol 2017;92:1187-92. [CrossRef] [PubMed]
Tefferi A, Partain DK, Palmer JM, Slack J, Roy V, Hogan W, et al. Allogeneic hematopoietic stem cell transplant overcomes the adverse survival effect of very high risk and unfavorable karyotype in myelo-fibrosis. Am J Hematol 2018;93:649-54. [CrossRef] [PubMed]
Tefferi A, Partain DK, Palmer JM, Slack JL, Roy V, Hogan WJ, et al. Allogeneic hematopoietic stem cell transplant overcomes the adverse survival effect of very high risk and unfavorable karyotype in myelo-fibrosis. Am J Hematol 2018;93:649-54. [CrossRef] [PubMed]
Tefferi A, Verstovsek S, Barosi G, Passamonti F, Roboz GJ, Gisslinger H, et al. Pomalidomide is active in the treatment of anemia associated with myelofibrosis. J Clin Oncol 2009;27:4563-9. [CrossRef] [PubMed]
Tefferi A. JAK inhibitors for myeloproliferative neo-plasms: clarifying facts from myths. Blood 2012;119: 2721-30. [CrossRef] [PubMed]
Tefferi A. Myelofibrosis with myeloid metaplasia. N Engl J Med 2000;342:1255-65. [CrossRef] [PubMed]
Tefferi A. Pathogenesis of myelofibrosis with myeloid metaplasia. J Clin Oncol 2005;23:8520-30. [CrossRef] [PubMed]
Tefferi A. Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management. Am J Hematol 2013;88:141-50. [CrossRef] [PubMed]
Tefferi A. Primary myelofibrosis: 2019 update on diag-nosis, risk-stratification, and management. Am J Hematol 2018;93(12):1551-60. [CrossRef] [PubMed]
Thomas D, Giles F, Albitar M, Cortes J, Verstovsek S, Faderl S, et al. Thalidomide therapy for myelofibrosis with myeloid metaplasia. Cancer 2006;106:1974-84. [CrossRef] [PubMed]
Thomas D, Giles F, Albitar M, Cortes J, Verstovsek S, Faderl S, et al. Thalidomide therapy for myelofibrosis with myeloid metaplasia. Cancer 2006;106:1974-84. [CrossRef] [PubMed]
Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereiraet A, et al. Mutations and prog-nosis in primary myelofibrosis. Leukemia 2013;27: 1861-9. [CrossRef] [PubMed]
Verstovsek S, Kantarjian H, Mesa RA, Pardanani A, Cortes-Franco J, Thomas D, et al. Safety and efficacy of INCB018424, a JAK1 and JAk2 inhibitor, in myelo-fibrosis. N Engl J Med 2010;363(12):1117-27. [CrossRef] [PubMed]
Verstovsek S, Mesa R, Gotlib J, Levy R, Gupta V, DiPersio J, et al. Efficacy, safety, and survival with ruxolitinib in patients with myelofibrosis: results of a median 3-year follow-up of COMFORT-I. Haematolo-gica 2015;100:479-88. [CrossRef] [PubMed]
Verstovsek S, Mesa RA, Gotlib J, Levy R, Gupta V, DiPersio J, et al. A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis. N Engl J Med 2012;366:799-807. [CrossRef] [PubMed]