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Genetic-based personalized treatment of MPN
References
1. Vainchenker W, Kralovics R. Genetic basic and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017; 129(6):667-679.
2.Grinfeld J, Nangalia J, Baxtyer EJ, et al. Classification and personalized prognosis in myeloproliferative neoplasms. N Engl J Med. 2018;379(15):1416-1430.
3. Mughal TI, Gotlib J, Mesa R, et al. Recent advances in the genomics and therapy of BCR/ABL1-positive and -negative chronic myeloproliferative neoplasms. Leuk Res. 2018;67:67-74.
4. Verstovsek S, Mesa RA, Gotlib J, et al. A double-blind, placebo-controlled trial of rux- olitinib for myelofibrosis. N Engl J Med. 2012;366(9):799-807.
5. Arock M, Sotlar K, Gotlib J, et al. New devel- opments in the field of mastocytosis and mast cell activation syndromes: a summary of the Annual Meeting of the European Competence Network on Mastocytosis (ECNM) 2019. Leuk Lymphoma. 2020;61(5): 1075-1083.
6. Mughal TI, Radich JP, Deininger MW, et al. Chronic myeloid leukemia: reminiscences and dreams. Haematologica. 2016;101(5): 541-558.
7. Smith G, Apperley J, Milojkovic D, et al. A British Society for Haematology Guideline on the diagnosis and management of chron- ic myeloid leukaemia. Br J Haematol. 2020;191(2):171-193.
8. Radich J, Yeung C, Wu D. New approaches to molecular monitoring in CML (and other diseases). Blood. 2019;134(19):1578-1584.
9. Mughal TI, Pemmaraju N, Radich JP, et al. Emerging translational science discoveries, clonal approaches, and treatment trends in chronic myeloproliferative neoplasms. Hematol Oncol. 2019;37(3):240-252.
10. Hochhaus A, Baccarani M, Silver RT, et al. European Leukemia Net 2020 recommenda- tions for treating chronic myeloid leukemia. Leukemia. 2020;34(4):1495-1502.
11. Deininger MW, Shah NP, Altman JK, et al. Chronic myeloid leukemia - NCCN guide- lines -version 2.2021. J Natl Compr Canc Netw. 2020;18(10):1385-1415.
12. Alikian M, Ellery P, Forbes M, et al. Next generation sequencing-assisted DNA-based digital PCR for a personalized approach to the detection and quantification of residual disease in chronic myeloid patients. J Mol Diagn. 2016;18(2):176-189.
13. Hughes T, Deininger M, Hochhaus A, et al. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmoniz- ing current methodology for detecting BCR- ABL transcripts and kinase domain muta- tions and for expressing results. Blood. 2006;108(1):28-37.
14. Brown JT, Laosinchai-Wolf W, Hedges JB, et al. Establishment of a standardized multi- plex assay with the analytical performance required for qualitative measurement of BCR-ABL1 on the international reporting scale. Blood Cancer J. 2011;1(3):e13.
15. Radich JR. Chronic myeloid leukemia: Global impact from a local laboratory. Cancer. 2017;123(14):2594-2596.
16. Yan D, Pomicter AD, O’Hare T, Deininger
MW. ddeeper than deep: can ddPCR predict successful imatinib cessation? Clin Cancer Res. 2019;25(22):6561-6563.
17. Hochhaus A, Breccia M, Saglio G, et al. Expert opinion- management of chronic myeloid after resistance to second-genera- tion tyrosine kinase inhibitors. Leukemia. 2020;34(6):1495-1502.
18. Ercaliskan A, Eskazan AE. The impact of BCR-ABL1 transcript type on tyrosine kinase inhibitor responses and outcomes in patients with chronic myeloid leukemia. Cancer. 2018;124(19):3806-3818.
19. Baccarani M, Castagnetti F, Gugliotta G, et al. The proportion of different BCR-ABL1 transcript types in chronic myeloid leukemia. An international overview. Leukemia. 2019;33(5):1173-1183.
20. Genthon A, Nicolini FE, Huguet F, et al. Infleunce of major BCR-ABL1 transcript subtype on outcome in patients with chron- ic myeloid leukemia in chronic phase treated frontline with nilotinib. Oncotarget. 2020;11(26):2560-2570.
21. Pagani IS, Dang P, Saunders V, et al. Lineage of measureable residual disease in patients with chronic myeloid leukemia in treat- ment-free remission. Leukemia. 2020;34(4): 1052-1061.
22. Bocchia M, Sicuranza A, Abruzzese E, et al. Residual peripheral blood CD26+ leukemic stem cells in chronic myeloid leukemia patients during TKI therapy and during treatment-free remission. Front Oncol. 2018;8:194.
23. Arock M, Sotlar M, Akin C, et al. KIT muta- tion analysis in mast cell neoplasms: recom- mendations of the European Competence Network on Mastocytosis. Leukemia. 2015;29(6):1223-1232.
24. Greiner G, Gurbisz M, Ratzinger F, et al. Digital PCR : a sensitive and precise method for KIT D816V quantification in mastocyto- sis. Clin Chem. 2018;64(3):547-555.
25. Reiter A, George TI, Gotlib J. New develop- ments in diagnosis, prognostication, and treatment of advanced systemic mastocyto- sis. Blood. 2020;135(16):1365-1376.
26. Martelli M, Monaldi C, De Santis S, et al. Recent advances in the molecular biology of systtemic mastocytosis: implications for diagnosis, prognosis, and therapy. Int J Mol Sci. 2020;21(11):3987.
27. Jawhar M, Schwaab J, Hausmann D, et al. Splenomegaly, elevated alkaline phos- phatase and mutations in SRSF2/ASXL1/ RUNXL1 gene panel are strong adverse prognostic markers in patients with sys- temic mastocytosis. Leukemia. 2016;30(12): 2342-2350.
28. Wu D, Sherwood A, Fromm JR, et al. High- throughput sequencing detects minimal residual disease in acute T lymphoblastic leukemia. Sci Transl Med. 2012;4(134): 134ra63.
29. Sasine JP, Schiller GJ. Acute myeloid leukemia: how do we measure success? Curr Hematol Malig Rep. 2016;11(6):528-536.
30. Soverini S, Bavaro L, De Benedittis C, et al. Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study. Blood. 2020;135(8):534-541.
31. Lee J, Godfrey AL, Nangalia J. Genomic het- erogeneity in myeloproliferative neoplasms
and applications to clinical practice. Blood
Rev. 2020;42:100708.
32. Jawhar M, Schwaab J, Schnittger S, et al.
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a dis- tinct and late event. Leukemia. 2015;29 (5):1115-1122.
33. Tang F, Barbacioru C, Wang Y, et al. mRNA- Seq whole-transcriptome analysis of a single cell. Nat Methods. 2009;6(5):377-382.
34. Psaila B, Mead AJ. Single-cell approaches reveal novel cellular pathways for megakaryocyte and erythroid differentia- tion. Blood. 2019;133(13):1427-1435.
35. Morris V, Marion W, Hughes T, et al. Single- cell analysis reveals mechanisms of plasticity of leukemia initiating cells. bioRxiv. 2020; April 30. [Epub ahead of print]
36. Psaila B, Wang G, Rodriguez-Meira A, et al. Single-cell analyses reveal megakaryocyte- biased hematopoiesis in myelofibrosis and identify mutant clone-specific targets. Mol Cell. 2020;78(3):477-492.
37. Grootens J, Ungerstedt JS, Ekoff M, et al. Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and pro- genitor cells in systemic mastocytosis. EBioMedicine. 2019;43:150-158.
38. Mead A. Single cell genomics in chronic myeloid leukemia. Hemasphere. 2018;2(S2): 54-55.
39. Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015;126(1):9-16.
40. Hasserjian RH, Steensma DP, Graubert TA, Ebert BL. Clonal hematopoiesis and mea- sureable disease assessment in acute myeloid leukemia. Blood. 2020;135(20): 1729-1738.
41. Warren JT, Link DC. Clonal hematopoiesis and risk for hematologic malignancy. Blood. 2020;136(14):1599-1605.
42.Jaiswal S, Natarajan P, Ebert BL. Clonal hematopoiesis and atherosclerosis. N Engl J Med. 2017;377(14):1401-1402.
43. Hameister E, Stolz SM, Fuhrer Y, et al. Clonal hematopoiesis in hospitalized elderly patients with COVID-19. Hemasphere. 2020;4(4):e453.
44. Jaiswal S. Clonal hematopoiesis and non- hematologic disorders. Blood. 2020;136(14): 1606-1614.
45. Boettcher S, Wilk CM, Singer J, et al. Clonal hematopoiesis in donors and long-term sur- vivors of related allogeneic hematopoietic stem cell transplantation. Blood. 2020;135 (18):1548-1559.
46.Kumar R, Pereira RS, Zanetti C, et al. Specific, targetable interactions with the microenvironment influence imatinib-resis- tant chronic myeloid leukemia. Leukemia. 2020;34(8):2087-2101.
47.Nangalia J, Mitchell E, Green AR. Clonal approaches to understand the impact of mutations on hematologic disease develop- ment. Blood. 2019;133(13):1436-1455.
48. Branford S, Kim DDH, Apperley JA, et al. Laying the foundation for genomically- based risk assessment in chronic myeloid leukemia. Leukemia. 2019;33(8):1835-1850.
49. Dunbar A, Rampal R, Levine R. Leukemia secondary to myeloproliferative neoplasms. Blood. 2020;136(1):61-70.
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