Page 95 - 2019_12-Haematologica-web

Somatic variants in CML-CP as predictive biomarker
treated with interferon alfa. Writing Committee for the Collaborative CML Prognostic Factors Project Group. J Natl Cancer Inst. 1998;90(11):850-858.
9. Sokal JE, Cox EB, Baccarani M, et al. Prognostic discrimination in "good-risk" chronic granulocytic leukemia. Blood. 1984;63(4):789-799.
10. Pfirrmann M, Baccarani M, Saussele S, et al. Prognosis of long-term survival considering disease-specific death in patients with chronic myeloid leukemia. Leukemia. 2016;30(1):48-56.
11. Baccarani M, Deininger MW, Rosti G, et al. European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013. Blood. 2013;122(6):872-884.
12. Hanfstein B, Muller MC, Hehlmann R, et al. Early molecular and cytogenetic response is predictive for long-term progression-free and overall survival in chronic myeloid leukemia (CML). Leukemia. 2012;26(9): 2096-2102.
13. Marin D, Ibrahim AR, Lucas C, et al. Assessment of BCR-ABL1 transcript levels at 3 months is the only requirement for pre- dicting outcome for patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors. J Clin Oncol. 2012;30(3): 232-238.
14. Hochhaus A, Larson RA, Guilhot F, et al. Long-Term Outcomes of Imatinib Treatment for Chronic Myeloid Leukemia. N Engl J Med. 2017;376(10):917-927.
15. Zoi K, Cross NC. Molecular pathogenesis of atypical CML, CMML and MDS/MPN- unclassifiable. Int J Hematol. 2015; 101(3):229-242.
16. Zent CS, Burack WR. Mutations in chronic lymphocytic leukemia and how they affect therapy choice: focus on NOTCH1, SF3B1, and TP53. Hematology Am Soc Hematol Educ Program. 2014;2014(1):119-124.
17. Boultwood J, Perry J, Pellagatti A, et al. Frequent mutation of the polycomb-associ- ated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. 2010;24(5):1062-1065.
18. Grossmann V, Kohlmann A, Zenger M, et al. A deep-sequencing study of chronic myeloid leukemia patients in blast crisis (BC-CML) detects mutations in 76.9% of cases. Leukemia. 2011;25(3):557-560.
19. Makishima H, Jankowska AM, McDevitt MA, et al. CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromo- somal aberrations constitute molecular events in chronic myelogenous leukemia. Blood. 2011;117(21):e198-206.
20. Soverini S, de Benedittis C, Mancini M, Martinelli G. Mutations in the BCR-ABL1 Kinase Domain and Elsewhere in Chronic Myeloid Leukemia. Clin Lymphoma Myeloma Leuk. 2015;15 Suppl:S120-128.
21. Togasaki E, Takeda J, Yoshida K, et al. Frequent somatic mutations in epigenetic regulators in newly diagnosed chronic myeloid leukemia. Blood Cancer J. 2017;7(4):e559.
22. Mologni L, Piazza R, Khandelwal P, Pirola A, Gambacorti-Passerini C. Somatic mutations identified at diagnosis by exome sequencing can predict response to imatinib in chronic
phase chronic myeloid leukemia (CML) patients. Am J Hematol. 2017;92(10):E623- E625.
23. Branford S, Wang P, Yeung DT, et al. Integrative genomic analysis reveals cancer- associated mutations at diagnosis of CML in patients with high-risk disease. Blood. 2018;132(9):948-961.
24. Kim T, Tyndel MS, Zhang Z, et al. Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. Leuk Res. 2017;59: 142-148.
25. Elena C, Gallì A, Bianchessi A, et al. Somatic Mutations Are Frequently Detected in Chronic Myeloid Leukemia in Chronic Phase and Do Not Affect Response to Tyrosine-Kinase Inhibitors. Blood. 2016;128(22):1117.
26. Ernst T, Busch M, Rinke J, et al. Frequent ASXL1 mutations in children and young adults with chronic myeloid leukemia. Leukemia. 2018;32(9):2046-2049.
27. Kim T, Tyndel MS, Kim HJ, et al. Spectrum of somatic mutation dynamics in chronic myeloid leukemia following tyrosine kinase inhibitor therapy. Blood. 2017; 129(1):38-47.
28. Schmidt M, Rinke J, Schafer V, et al. Molecular-defined clonal evolution in patients with chronic myeloid leukemia independent of the BCR-ABL status. Leukemia. 2014;28(12):2292-2299.
29. Fialkow PJ, Martin PJ, Najfeld V, Penfold GK, Jacobson RJ, Hansen JA. Evidence for a mul- tistep pathogenesis of chronic myelogenous leukemia. Blood. 1981;58(1):158-163.
30. Jaiswal S, Fontanillas P, Flannick J, et al. Age- related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488-2498.
31. Xie M, Lu C, Wang J, et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med. 2014;20(12):1472-1478.
32. Bazeos A, Lowe R, Nteliopoulos G, et al. The CML epigenome shows dynamic changes in the CD34+ compartment in patients who achieve complete cytogenetic response on tyrosine kinase inhibitors [abstract]. Haematologica. 2013;98(suppl 1):255.
33. Cross NC, White HE, Colomer D, et al. Laboratory recommendations for scoring deep molecular responses following treat- ment for chronic myeloid leukemia. Leukemia. 2015;29(5):999-1003.
34. O'Brien SG, Guilhot F, Larson RA, et al. Imatinib compared with interferon and low- dose cytarabine for newly diagnosed chron- ic-phase chronic myeloid leukemia. N Engl J Med. 2003;348(11):994-1004.
37. Kok CH, Leclercq T, Watkins DB, et al. Elevated PTPN2 expression is associated with inferior molecular response in de-novo chronic myeloid leukaemia patients. Leukemia. 2014;28(3):702-705.
38. McWeeney SK, Pemberton LC, Loriaux MM, et al. A gene expression signature of CD34+ cells to predict major cytogenetic response in chronic-phase chronic myeloid leukemia patients treated with imatinib. Blood. 2010;115(2):315-325.
39. Lucas CM, Harris RJ, Holcroft AK, et al. Second generation tyrosine kinase inhibitors prevent disease progression in high-risk (high CIP2A) chronic myeloid leukaemia patients. Leukemia. 2015; 29(7):1514-1523.
40. Jelinek J, Gharibyan V, Estecio MR, et al. Aberrant DNA methylation is associated with disease progression, resistance to ima- tinib and shortened survival in chronic myelogenous leukemia. PLoS One. 2011;6(7):e22110.
41. Machova Polakova K, Lopotova T, Klamova H, et al. Expression patterns of microRNAs associated with CML phases and their disease related targets. Mol Cancer. 2011;10:41.
42. Grinfeld J, Gerrard G, Alikian M, et al. A common novel splice variant of SLC22A1 (OCT1) is associated with impaired responses to imatinib in patients with chronic myeloid leukaemia. Br J Haematol. 2013;163(5):631-639.
43. Marum JE, Yeung DT, Purins L, et al. ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure. Blood Adv. 2017;1(18):1369-1381.
44. Ng KP, Hillmer AM, Chuah CT, et al. A com- mon BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. Nat Med. 2012;18(4):521-528.
45. Perrotti D, Jamieson C, Goldman J, Skorski T. Chronic myeloid leukemia: mechanisms of blastic transformation. J Clin Invest. 2010;120(7):2254-2264.
46. Heller G, Topakian T, Altenberger C, et al. Next-generation sequencing identifies major DNA methylation changes during progres- sion of Ph+ chronic myeloid leukemia. Leukemia. 2016;30(9):1861-1868.
47. Castagnetti F, Gugliotta G, Breccia M, et al. Long-term outcome of chronic myeloid leukemia patients treated frontline with imatinib. Leukemia. 2015;29(9):1823-1831.
48. Pfirrmann M, Evtimova D, Saussele S, et al. No influence of BCR-ABL1 transcript types e13a2 and e14a2 on long-term survival: results in 1494 patients with chronic myeloid leukemia treated with imatinib. J Cancer Res Clin Oncol. 2017;143(5):843-
35. Bower H, Bjorkholm M, Dickman PW, 850.
Hoglund M, Lambert PC, Andersson TM. Life Expectancy of Patients With Chronic Myeloid Leukemia Approaches the Life Expectancy of the General Population. J Clin Oncol. 2016;34(24):2851-2857.
36. Alonso-Dominguez JM, Grinfeld J, Alikian M, et al. PTCH1 expression at diagnosis pre- dicts imatinib failure in chronic myeloid leukaemia patients in chronic phase. Am J Hematol. 2015;90(1):20-26.
49. Jain P, Kantarjian H, Patel KP, et al. Impact of BCR-ABL transcript type on outcome in patients with chronic-phase CML treated with tyrosine kinase inhibitors. Blood. 2016;127(10):1269-1275.
50. Fabarius A, Kalmanti L, Dietz CT, et al. Impact of unbalanced minor route versus major route karyotypes at diagnosis on prognosis of CML. Ann Hematol. 2015; 94(12):2015-2024.
haematologica | 2019; 104(12)
2409