New molecular genetics in the diagnosis and treatment of myeloproliferative neoplasms

Current Opinion in Hematology

Volumn 23, Issue 2, 2016, Pages 137-143

  Passamonti, Francesco ^a,b   Mora, Barbara ^b   Maffioli, Margherita ^b  

^a UNIVERSITY OF INSUBRIA   (Italy)

^b OSPEDALE DI CIRCOLO   (Italy)

Author keywords

CALR; JAK2; myelofibrosis; polycythemia; thrombocythemia; transplant

Indexed keywords

FEDRATINIB; IMETELSTAT; INTERFERON; MOMELOTINIB; RUXOLITINIB; TELOMERASE; TUMOR MARKER;

ALLOGENEIC STEM CELL TRANSPLANTATION; CANCER PROGNOSIS; DRUG RESPONSE; ENZYME ACTIVITY; ENZYME INHIBITION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOLECULAR MODEL; MUTATIONAL ANALYSIS; MYELOID METAPLASIA; MYELOPROLIFERATIVE NEOPLASM; NONHUMAN; PREDICTION; PRIORITY JOURNAL; REVIEW; TUMOR DIAGNOSIS; ADVERSE EFFECTS; ALLELE; ALLOTRANSPLANTATION; DISEASE MANAGEMENT; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; MOLECULARLY TARGETED THERAPY; MORTALITY; MUTATION; MYELOPROLIFERATIVE DISORDERS; PROCEDURES; PROGNOSIS; TREATMENT OUTCOME;

ALLELES; BIOMARKERS, TUMOR; DISEASE MANAGEMENT; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; MOLECULAR TARGETED THERAPY; MUTATION; MYELOPROLIFERATIVE DISORDERS; PROGNOSIS; TRANSPLANTATION, HOMOLOGOUS; TREATMENT OUTCOME;

EID: 84957432341     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0000000000000218     Document Type: Review

References (72)

1. Tefferi A, Thiele J, Vannucchi AM, Barbui T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia 2014; 28:1407-1413.
2. Passamonti F. How I treat polycythemia vera. Blood 2012; 120:275-284.
3. Tefferi A, Cervantes F, Mesa R, 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; 122:1395-1398.
4. Cervantes F, Dupriez B, Passamonti F, et al. Improving survival trends in primary myelofibrosis: an international study. J Clin Oncol 2012; 30:2981-2987.
5. Tefferi A, Guglielmelli P, Larson DR, et al. Long-term survival and blast transformation in molecularly-annotated essential thrombocythemia, polycythemia vera and myelofibrosis. Blood 2014; 124:2507-2513.
6. Passamonti F, Maffioli M, Caramazza D, Cazzola M. Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies. Oncotarget 2011; 2:485-490.
7. Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 2013; 369:2391-2405.
8. Tefferi A, Lasho TL, Finke CM, et al. CALR vs JAK2 vs MPL mutated or triplenegative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia 2014; 28:1472-1477.
9. Passamonti F, Caramazza D, Maffioli M. JAK inhibitor in CALR-mutant myelofibrosis. N Engl J Med 2014; 370:1168-1169.
10. Maffioli M, Genoni A, Caramazza D, et al. Looking for CALR mutations in familial myeloproliferative neoplasms. Leukemia 2014; 28:1357-1360.
11. Milosevic Feenstra JD, Nivarthi H, Gisslinger H, et al. Whole exome sequencing identifies novel MPL and JAK2 mutations in triple negative myeloproliferative neoplasms. Blood 2015. [Epub ahead of print]
12. Passamonti F. How to manage polycythemia vera. Leukemia 2012; 26:870-874.
13. 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.
14. Passamonti F, Maffioli M, Caramazza D. New generation small-molecule inhibitors in myeloproliferative neoplasms. Curr Opin Hematol 2012; 19:117-123.
15. Passamonti F, Vannucchi AM, Cervantes F, et al. Ruxolitinib and survival improvement in patients with myelofibrosis. Leukemia 2015; 29:739-740.
16. Passamonti F, Maffioli M, Cervantes F, et al. Impact of ruxolitinib on the natural history of primary myelofibrosis: a comparison of the DIPSS and the COMFORT-2 cohorts. Blood 2014; 123:1833-1835.
17. Vannucchi AM, Kiladjian JJ, Griesshammer M, et al. Ruxolitinib versus standard therapy for the treatment of polycythemia vera. N Engl J Med 2015; 372:426-435.
18. Verstovsek S, Passamonti F, Rambaldi A, et al. A phase 2 study of ruxolitinib, an oral JAK1 and JAK2 inhibitor, in patients with advanced polycythemia vera who are refractory or intolerant to hydroxyurea. Cancer 2014; 120:513-520.
19. Passamonti F. Balancing efficacy and safety of JAK inhibitors in myelofibrosis. Leuk Res 2014; 38:290-291.
20. Cervantes F, Vannucchi AM, Kiladjian JJ, 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; 122:4047-4053.
21. Pardanani A, Harrison C, Cortes JE, et al. Safety and efficacy of fedratinib in patients with primary or secondary myelofibrosis: a randomized clinical trial. JAMA Oncol 2015; 1:643-651.
22. Kroger N, Giorgino T, Scott BL, et al. Impact of allogeneic stem cell transplantation on survival of patients less than 65 years with primary myelofibrosis. Blood 2015; 125:3347-3350.
23. Kroger NM, Deeg JH, Olavarria E, et al. Indication and management of allogeneic stem cell transplantation in primary myelofibrosis: a consensus process by an EBMT/ELN international working group. Leukemia 2015; 29:2126-2133.
24. Broseus J, Park JH, Carillo S, et al. Presence of calreticulin mutations in JAK2-negative polycythemia vera. Blood 2014; 124:3964-3966.
25. Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 2013; 369:2379-2390.
26. Lin Y, Liu E, Sun Q, et al. The prevalence of JAK2, MPL, and CALR mutations in Chinese patients with BCR-ABL1-negative myeloproliferative neoplasms. Am J Clin Pathol 2015; 144:165-171.
27. Skoda RC, Duek A, Grisouard J. Pathogenesis of myeloproliferative neoplasms. Exp Hematol 2015; 43:599-608.
28. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008; 22:14-22.
29. Fontanelli G, Barate C, Ciabatti E, et al. Real-Time PCR and Droplet Digital PCR: two techniques for detection of the JAK2 mutation in Philadelphianegative chronic myeloproliferative neoplasms. Int J Lab Hematol 2015. [Epub ahead of print]
30. Morishita S, Takahashi K, Araki M, et al. Melting curve analysis after T allele enrichment (MelcaTle) as a highly sensitive and reliable method for detecting the JAK2V617F mutation. PLoS One 2015; 10:e0122003.
31. Ortmann CA, Kent DG, Nangalia J, et al. Effect of mutation order on myeloproliferative neoplasms. N Engl J Med 2015; 372:601-612.
32. Etheridge SL, Cosgrove ME, Sangkhae V, et al. A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood 2014; 123:1059-1068.
33. Marty C, Saint-Martin C, Pecquet C, 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; 123:1372-1383.
34. 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.
35. Passamonti F, Rumi E. Clinical relevance of JAK2 (V617F) mutant allele burden. Haematologica 2009; 94:7-10.
36. Borowczyk M, Wojtaszewska M, Lewandowski K, et al. The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboembolic events in patients with Philadelphia-negative myeloproliferative neoplasms. Thromb Res 2015; 135:272-280.
37. Shirane S, Araki M, Morishita S, et al. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica 2015; 100:e46-e48.
38. 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.
39. Vannucchi AM, Rotunno G, Bartalucci N, et al. Calreticulin mutation-specific immunostaining in myeloproliferative neoplasms: pathogenetic insight and diagnostic value. Leukemia 2014; 28:1811-1818.
40. Stein H, Bob R, Durkop H, et al. A new monoclonal antibody (CAL2) detects CALRETICULIN mutations in formalin-fixed and paraffin-embedded bone marrow biopsies. Leukemia 2015. [Epub ahead of print]
41. Tefferi A, Wassie EA, Guglielmelli P, et al. Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients. Am J Hematol 2014; 89:E121-E124.
42. Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood 2014; 123:1544-1551.
43. Rotunno G, Mannarelli C, Guglielmelli P, et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood 2014; 123:1552-1555.
44. Passamonti F, Thiele J, Girodon F, 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; 120:1197-1201.
45. Barbui T, Finazzi G, Carobbio A, et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organizationessential thrombocythemia (IPSET-thrombosis). Blood2012;120:5128-5133.
46. Gangat N, Wassie EA, Lasho TL, et al. Mutations and thrombosis in essential thrombocythemia: prognostic interaction with age and thrombosis history. Eur J Haematol 2015; 94:31-36.
47. Finazzi G, Carobbio A, Guglielmelli P, et al. Calreticulin mutation does not modify the IPSET score for predicting the risk of thrombosis among 1150 patients with essential thrombocythemia. Blood 2014; 124:2611-2612.
48. Tefferi A, Guglielmelli P, Lasho TL, et al. CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: an international study of 570 patients. Leukemia 2014; 28:1494-1500.
49. Tefferi A, Lasho TL, Finke C, et al. Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact. Leukemia 2014; 28:1568-1570.
50. Rumi E, Pietra D, Pascutto C, et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood 2014; 124:1062-1069.
51. Vannucchi AM, Lasho TL, Guglielmelli P, et al. Mutations and prognosis in primary myelofibrosis. Leukemia 2013; 27:1861-1869.
52. Guglielmelli P, Lasho TL, Rotunno G, et al. The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients. Leukemia 2014; 28:1804-1810.
53. 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.
54. Passamonti F, Cervantes F, Vannucchi AM, 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; 115:1703-1708.
55. Passamonti F, Cervantes F, Vannucchi AM, et al. Dynamic International Prognostic Scoring System (DIPSS) predicts progression to acute myeloid leukemia in primary myelofibrosis. Blood 2010; 116:2857-2858.
56. Passamonti F. Prognostic factors and models in polycythemia vera, essential thrombocythemia, and primary myelofibrosis. Clin Lymphoma Myeloma Leuk 2011; 11 (Suppl 1):S25-S27.
57. 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.
58. Vannucchi AG, Rotunno PG, et al. Mutation-Enhanced International Prognostic Scoring System (MIPSS) for primary myelofibrosis: an AGIMM & IWGMRT Project. Blood 2014; 124: Abstract 405.
59. Verstovsek S, Kantarjian HM, Estrov Z, 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; 120:1202-1209.
60. Verstovsek S, Passamonti F, Rambaldi A, et al. A phase 2 study of ruxolitinib, an oral JAK1 and JAK2 inhibitor, in patients with advanced polycythemia vera who are refractory or intolerant to hydroxyurea. Cancer 2013; 120:513-520.
61. Deininger M, Radich J, Burn TC, et al. The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis. Blood 2015; 126:1551-1554.
62. Guglielmelli P, Biamonte F, Rotunno G, et al. Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study. Blood 2014; 123:2157-2160.
63. Cassinat B, Verger E, Kiladjian JJ. Interferon alfa therapy in CALR-mutated essential thrombocythemia. N Engl J Med 2014; 371:188-189.
64. Guglielmelli P, Rotunno G, Bogani C, et al. Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis. Br J Haematol 2015. [Epub ahead of print]
65. Koppikar P, Bhagwat N, Kilpivaara O, et al. Heterodimeric JAK-STAT activation as a mechanism of persistence to JAK2 inhibitor therapy. Nature 2012; 489:155-159.
66. Meyer SC, Keller MD, Chiu S, et al. CHZ868, a type II JAK2 inhibitor, reverses type I JAK inhibitor persistence and demonstrates efficacy in myeloproliferative neoplasms. Cancer Cell 2015; 28:15-28.
67. Pardanani A, Abdelrahman RA, Finke C, et al. Genetic determinants of response and survival in momelotinib-treated patients with myelofibrosis. Leukemia 2015; 29:741-744.
68. Baerlocher GM, Oppliger Leibundgut E, Ottmann OG, et al. Telomerase inhibitor imetelstat in patients with essential thrombocythemia. N Engl J Med 2015; 373:920-928.
69. Tefferi A, Lasho TL, Begna KH, et al. A pilot study of the telomerase inhibitor imetelstat for myelofibrosis. N Engl J Med 2015; 373:908-919.
70. Gisslinger H, Zagrijtschuk O, Buxhofer-Ausch V, et al. Ropeginterferon alfa-2b, a novel IFNalpha-2b, induces high response rates with low toxicity in patients with polycythemia vera. Blood 2015; 126:1762-1769.
71. Them NC, Bagienski K, Berg T, et al. Molecular responses and chromosomal aberrations in patients with polycythemia vera treated with peg-proline-interferon alpha-2b. Am J Hematol 2015; 90:288-294.
72. Panagiota V, Thol F, Markus B, et al. Prognostic effect of calreticulin mutations in patients with myelofibrosis after allogeneic hematopoietic stem cell transplantation. Leukemia 2014; 28:1552-1555.