REFERENCES
1. Chen Q, Jain N, Ayer T, et al. Economic burden of chronic lymphocytic leukemia in the era of oral targeted therapies in the United States. J Clin Oncol 2017;35:166-74.
2. Thompson PA, Tam CS, O’Brien SM, et al. Fludarabine, cyclophosphamide, and rituximab treatment achieves long-term disease-free survival in IGHV-mutated chronic lymphocytic leukemia. Blood 2016;127:303-9.
3. Fischer K, Bahlo J, Fink AM, et al. Long-term remissions after FCR chemoimmunotherapy in previously untreated patients with CLL: updated results of the CLL8 trial. Blood 2016;127:208-15.
4. Eichhorst B, Niemann CU, Kater AP, et al. GCLLSG; the HOVON and Nordic CLL Study Groups; the SAKK; the Israeli CLL Association; and Cancer Trials Ireland. First-line venetoclax combinations in chronic lymphocytic leukemia. N Engl J Med 2023;388:1739-54.
5. Zenz T, Eichhorst B, Busch R, et al. TP53 mutation and survival in chronic lymphocytic leukemia. J Clin Oncol 2010;28:4473-9.
6. Fischer K, Cramer P, Busch R, et al. Bendamustine in combination with rituximab for previously untreated patients with chronic lymphocytic leukemia: a multicenter phase II trial of the German Chronic Lymphocytic Leukemia Study Group. J Clin Oncol 2012;30:3209-16.
7. Stilgenbauer S, Schnaiter A, Paschka P, et al. Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial. Blood 2014;123:3247-54.
8. Rossi D, Cerri M, Deambrogi C, et al. The prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of Del17p13: implications for overall survival and chemorefractoriness. Clin Cancer Res 2009;15:995-1004.
9. Malcikova J, Tausch E, Rossi D, et al. European Research Initiative on Chronic Lymphocytic Leukemia (ERIC) -
11. Malcikova J, Pavlova S, Kunt Vonkova B, et al. Low-burden TP53 mutations in CLL: clinical impact and clonal evolution within the context of different treatment options. Blood 2021;138:2670-85.
12. Rigolin GM, Cavallari M, Quaglia FM, et al. In CLL, comorbidities and the complex karyotype are associated with an inferior outcome independently of CLL-IPI. Blood 2017;129:3495-8.
13. Raponi S, Del Giudice I, Marinelli M, et al. Genetic landscape of ultra-stable chronic lymphocytic leukemia patients. Ann Oncol 2018;29:966-72.
14. Rose-Zerilli MJ, Forster J, Parker H, et al. ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial. Haematologica 2014;99:736-42.
15. Austen B, Skowronska A, Baker C, et al. Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion. J Clin Oncol 2007;25:5448-57.
16. Herling CD, Klaumünzer M, Rocha CK, et al. Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy. Blood 2016;128:395-404.
17. Ramsay AJ, Quesada V, Foronda M, et al. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat Genet 2013;45:526-30.
18. Asslaber D, Wacht N, Leisch M, et al. BIRC3 expression predicts CLL progression and defines treatment sensitivity via enhanced
19. Diop F, Moia R, Favini C, et al. Biological and clinical implications of BIRC3 mutations in chronic lymphocytic leukemia. Haematologica 2020;105:448-56.
20. Kater AP, Jiang Y, Chyla B, Seymour JF. Response in patients with BIRC3-mutated relapsed/refractory chronic lymphocytic leukemia treated with fixed-duration venetoclax and rituximab. Haematologica 2020;105:e382-3.
21. Tausch E, Beck P, Schlenk RF, et al. Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1. Haematologica 2020;105:2440-7.
22. Nadeu F, Delgado J, Royo C, et al. Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia. Blood 2016;127:2122-30.
23. Fabbri G, Holmes AB, Viganotti M, et al. Common nonmutational NOTCH1 activation in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A 2017;114:E2911-9.
24. Rossi D, Rasi S, Fabbri G, et al. Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia. Blood 2012;119:521-9.
25. Balatti V, Bottoni A, Palamarchuk A, et al. NOTCH1 mutations in CLL associated with trisomy 12. Blood 2012;119:329-31.
26. Sutton LA, Young E, Baliakas P, et al. ERIC; the European Research Initiative on CLL. Different spectra of recurrent gene mutations in subsets of chronic lymphocytic leukemia harboring stereotyped B-cell receptors. Haematologica 2016;101:959-67.
27. Edelmann J, Dokal AD, Vilventhraraja E, et al. Rituximab and obinutuzumab differentially hijack the B cell receptor and NOTCH1 signaling pathways. iScience 2021;24:102089.
28. Estenfelder S, Tausch E, Robrecht S, et al. Gene mutations and treatment outcome in the context of chlorambucil (Clb) without or with the addition of Rituximab (R) or Obinutuzumab (GA-101, G) - results of an extensive analysis of the phase III study CLL11 of the German CLL Study Group. Blood 2016;128:3227.
29. Close V, Close W, Kugler SJ, et al. FBXW7 mutations reduce binding of NOTCH1, leading to cleaved NOTCH1 accumulation and target gene activation in CLL. Blood 2019;133:830-9.
31. De Paoli L, Cerri M, Monti S, et al. MGA, a suppressor of MYC, is recurrently inactivated in high risk chronic lymphocytic leukemia. Leuk Lymphoma 2013;54:1087-90.
32. Hurlin PJ, Steingrìmsson E, Copeland NG, Jenkins NA, Eisenman RN. Mga, a dual-specificity transcription factor that interacts with Max and contains a T-domain DNA-binding motif. EMBO J 2000;19:3841-2.
33. Rossi D, Bruscaggin A, Spina V, et al. Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness. Blood 2011;118:6904-8.
35. Wang L, Brooks AN, Fan J, et al. Transcriptomic characterization of SF3B1 mutation reveals its pleiotropic effects in chronic lymphocytic leukemia. Cancer Cell 2016;30:750-63.
36. Yin S, Gambe RG, Sun J, et al. A murine model of chronic lymphocytic leukemia based on B cell-restricted expression of Sf3b1 mutation and atm deletion. Cancer Cell 2019;35:283-96.e5.
37. Walker JS, Hing ZA, Harrington B, et al. Recurrent XPO1 mutations alter pathogenesis of chronic lymphocytic leukemia. J Hematol Oncol 2021;14:17.
38. Cosson A, Chapiro E, Bougacha N, et al. Gain in the short arm of chromosome 2 (2p+) induces gene overexpression and drug resistance in chronic lymphocytic leukemia: analysis of the central role of XPO1. Leukemia 2017;31:1625-9.
39. Taylor J, Sendino M, Gorelick AN, et al. Altered nuclear export signal recognition as a driver of oncogenesis. Cancer Discov 2019;9:1452-67.
40. Landau DA, Tausch E, Taylor-Weiner AN, et al. Mutations driving CLL and their evolution in progression and relapse. Nature 2015;526:525-30.
41. Ljungström V, Cortese D, Young E, et al. Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood 2016;127:1007-16.
42. Bretones G, Álvarez MG, Arango JR, et al. Altered patterns of global protein synthesis and translational fidelity in RPS15-mutated chronic lymphocytic leukemia. Blood 2018;132:2375-88.
43. Gutierrez C, Ouspenskaia T, Fu D, et al. RPS15 and TP53 co-mutation drives B cell malignancy through altered translation and MYC activation in a murine model. Blood 2020;136:28-9.
44. Vendramini E, Bomben R, Pozzo F, et al. KRAS, NRAS, and BRAF mutations are highly enriched in trisomy 12 chronic lymphocytic leukemia and are associated with shorter treatment-free survival. Leukemia 2019;33:2111-5.
45. Ghia P, Stamatopoulos K, Belessi C, et al. European Research Initiative on CLL. ERIC recommendations on IGHV gene mutational status analysis in chronic lymphocytic leukemia. Leukemia 2007;21:1-3.
46. Eichhorst B, Fink AM, Bahlo J, et al. international group of investigators; German CLL Study Group (GCLLSG). First-line chemoimmunotherapy with bendamustine and rituximab versus fludarabine, cyclophosphamide, and rituximab in patients with advanced chronic lymphocytic leukaemia (CLL10): an international, open-label, randomised, phase 3, non-inferiority trial. Lancet Oncol 2016;17:928-42.
47. Langerak AW, Ritgen M, Goede V, et al. Prognostic value of MRD in CLL patients with comorbidities receiving chlorambucil plus obinutuzumab or rituximab. Blood 2019;133:494-7.
48. Knisbacher BA, Lin Z, Hahn CK, et al. Molecular map of chronic lymphocytic leukemia and its impact on outcome. Nat Genet 2022;54:1664-74.
49. Herling CD, Coombes KR, Benner A, et al. Time-to-progression after front-line fludarabine, cyclophosphamide, and rituximab chemoimmunotherapy for chronic lymphocytic leukaemia: a retrospective, multicohort study. Lancet Oncol 2019;20:1576-86.
50. Ferracin M, Zagatti B, Rizzotto L, et al. MicroRNAs involvement in fludarabine refractory chronic lymphocytic leukemia. Mol Cancer 2010;9:123.
51. Ferrajoli A, Shanafelt TD, Ivan C, et al. Prognostic value of miR-155 in individuals with monoclonal B-cell lymphocytosis and patients with B chronic lymphocytic leukemia. Blood 2013;122:1891-9.
52. Zenz T, Mohr J, Eldering E, et al. miR-34a as part of the resistance network in chronic lymphocytic leukemia. Blood 2009;113:3801-8.
53. He L, He X, Lowe SW, Hannon GJ. microRNAs join the p53 network - another piece in the tumour-suppression puzzle. Nat Rev Cancer 2007;7:819-22.
54. Calin GA, Liu CG, Sevignani C, et al. MicroRNA profiling reveals distinct signatures in B cell chronic lymphocytic leukemias. Proc Natl Acad Sci U S A 2004;101:11755-60.
55. Wang L, Lawrence MS, Wan Y, et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011;365:2497-506.
56. Shuai S, Suzuki H, Diaz-Navarro A, et al. The U1 spliceosomal RNA is recurrently mutated in multiple cancers. Nature 2019;574:712-6.
57. Wu Y, Jin M, Fernandez M, et al. METTL3-mediated m6A modification controls splicing factor abundance and contributes to aggressive CLL. Blood Cancer Discov 2023;4:228-45.
58. Herbst SA, Vesterlund M, Helmboldt AJ, et al. Proteogenomics refines the molecular classification of chronic lymphocytic leukemia. Nat Commun 2022;13:6226.
59. Kulis M, Heath S, Bibikova M, et al. Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia. Nat Genet 2012;44:1236-42.
60. Oakes CC, Seifert M, Assenov Y, et al. DNA methylation dynamics during B cell maturation underlie a continuum of disease phenotypes in chronic lymphocytic leukemia. Nat Genet 2016;48:253-64.
61. Queirós AC, Villamor N, Clot G, et al. A B-cell epigenetic signature defines three biologic subgroups of chronic lymphocytic leukemia with clinical impact. Leukemia 2015;29:598-605.
62. Nadeu F, Royo R, Clot G, et al. IGLV3-21R110 identifies an aggressive biological subtype of chronic lymphocytic leukemia with intermediate epigenetics. Blood 2021;137:2935-46.
63. Duran-Ferrer M, Clot G, Nadeu F, et al. The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome. Nat Cancer 2020;1:1066-81.
64. Barrow TM, Nakjang S, Lafta F, et al. Epigenome-wide analysis reveals functional modulators of drug sensitivity and post-treatment survival in chronic lymphocytic leukaemia. Br J Cancer 2021;124:474-83.
65. Gruber M, Bozic I, Leshchiner I, et al. Growth dynamics in naturally progressing chronic lymphocytic leukaemia. Nature 2019;570:474-9.
66. Landau DA, Sun C, Rosebrock D, et al. The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy. Nat Commun 2017;8:2185.
