Page 116 - 2021_09-Haematologica-web

E. Oppliger Leibundgut et al.
Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood. 2014;123(14):2220-2228.
9. Vainchenker W, Kralovics R. Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017; 129(6):667-679.
10. Harutyunyan A, Klampfl T, Cazzola M, Kralovics R. p53 lesions in leukemic trans- formation. N Engl J Med. 2011;364(5):488- 490.
11. Cerquozzi S, Tefferi A. Blast transforma- tion and fibrotic progression in poly- cythemia vera and essential thrombo- cythemia: a literature review of incidence and risk factors. Blood Cancer J. 2015;5(11):e366.
12.Tefferi A, Lasho TL, Guglielmelli P, et al. Targeted deep sequencing in polycythemia vera and essential thrombocythemia. Blood Adv. 2016;1(1):21-30.
13.Grinfeld J, Nangalia J, Baxter EJ, et al. Classification and personalized prognosis in myeloproliferative neoplasms. N Engl J Med. 2018;379(15):1416-1430.
14. Tefferi A, Guglielmelli P, Lasho TL, et al. Mutation-enhanced international prognos- tic systems for essential thrombocythaemia and polycythaemia vera. Br J Haematol. 2020;189(2):291-302.
15. Verger E, Cassinat B, Chauveau A, et al. Clinical and molecular response to interfer- on-alpha therapy in essential thrombo- cythemia patients with CALR mutations. Blood. 2015;126(24):2585-2591.
16.Kiladjian JJ, Masse A, Cassinat B, et al. Clonal analysis of erythroid progenitors suggests that pegylated interferon alpha-2a treatment targets JAK2V617F clones with- out affecting TET2 mutant cells. Leukemia. 2010;24(8):1519-1523.
17.Patel KP, Newberry KJ, Luthra R, et al. Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib. Blood. 2015;126(6):790-797.
18. Tefferi A, Lasho TL, Begna KH, et al. A Pilot Study of the telomerase inhibitor imetelstat for myelofibrosis. N Engl J Med. 2015; 373(10):908-919.
19. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neo- plasms and acute leukemia. Blood. 2016;127(20):2391-2405.
20. Barosi G, Birgegard G, Finazzi G, et al. Response criteria for essential thrombo- cythemia and polycythemia vera: result of a European LeukemiaNet consensus con- ference. Blood. 2009;113(20):4829-4833.
21. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249.
22. Pratcorona M, Abbas S, Sanders MA, et al. Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognos- tic value. Haematologica. 2012;97(3):388- 392.
23. Gelsi-Boyer V, Trouplin V, Adelaide J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788-800.
24. Langemeijer SM, Kuiper RP, Berends M, et al. Acquired mutations in TET2 are com- mon in myelodysplastic syndromes. Nat Genet. 2009;41(7):838-842.
25. Rychlik W. OLIGO 7 primer analysis soft- ware. Methods Mol Biol. 2007;402:35-60.
26. Untergasser A, Cutcutache I, Koressaar T, et al. Primer3--new capabilities and inter- faces. Nucleic Acids Res. 2012;40(15):e115.
27. Jones AV, Cross NC. Inherited predisposi- tion to myeloproliferative neoplasms. Ther Adv Hematol. 2013;4(4):237-253.
28.Nangalia J, Nice FL, Wedge DC, et al. DNMT3A mutations occur early or late in patients with myeloproliferative neo- plasms and mutation order influences phe- notype. Haematologica. 2015; 100(11): e438-442.
29.Ortmann CA, Kent DG, Nangalia J, et al. Effect of mutation order on myeloprolifera- tive neoplasms. N Engl J Med. 2015; 372(7):601-612.
30.Debarri H, Lebon D, Roumier C, et al. IDH1/2 but not DNMT3A mutations are suitable targets for minimal residual disease monitoring in acute myeloid leukemia patients: a study by the Acute Leukemia French Association. Oncotarget. 2015; 6(39):42345-42353.
31. Jeziskova I, Musilova M, Culen M, et al. Distribution of mutations in DNMT3A gene and the suitability of mutations in R882 codon for MRD monitoring in patients with AML. Int J Hematol. 2015;102(5):553-557.
32.Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associat- ed with adverse outcomes. N Engl J Med. 2014;371(26):2488-2498.
33.Zink F, Stacey SN, Norddahl GL, et al. Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly. Blood. 2017;130(6):742-752.
34. Jaiswal S, Ebert BL. Clonal hematopoiesis in human aging and disease. Science. 2019;366(6465):eaan4673.
35. Boiocchi L, Hasserjian RP, Pozdnyakova O, et al. Clinicopathological and molecular features of SF3B1-mutated myeloprolifera- tive neoplasms. Hum Pathol. 2019;86:1- 11.
36. Kubesova B, Pavlova S, Malcikova J, et al. Low-burden TP53 mutations in chronic phase of myeloproliferative neoplasms: association with age, hydroxyurea admin- istration, disease type and JAK2 mutational status. Leukemia. 2018;32(2):450-461.
37. Montalban-Bravo G, Takahashi K, Patel K, et al. Impact of the number of mutations in survival and response outcomes to hypomethylating agents in patients with myelodysplastic syndromes or myelodys- plastic/myeloproliferative neoplasms. Oncotarget. 2018;9(11):9714-9727.
2404
haematologica | 2021; 106(9)