Page 172 - 2019_07 resto del Mondo-web
P. 172

J.R. Jones et al.
26. Durie BG, Harousseau JL, Miguel JS, et al.
International uniform response criteria for multiple myeloma. Leukemia. 2006; 20(9):1467-1473.
27. Graham H Jackson, Faith Davies, Charlotte Pawlyn, et al. Lenalidomide induction and maintenance therapy for transplant eligible myeloma patients: Results of the Myeloma XI study. J Clin Oncol. 2017; 35: 15_suppl:8009-8009.
28. Walker BA, Wardell CP, Murison A, et al. APOBEC family mutational signatures are associated with poor prognosis transloca- tions in multiple myeloma. Nat Commun. 2015;6:6997.
29. Saunders CT, Wong WS, Swamy S, Becq J, Murray LJ, Cheetham RK. Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs. Bioinformatics (Oxford, England). 2012;28(14):1811-1817.
30. Cibulskis K, Lawrence MS, Carter SL, et al. Sensitive detection of somatic point muta- tions in impure and heterogeneous cancer samples. Nat Biotechnol. 2013;31(3):213- 219.
31. Miller CA, White BS, Dees ND, et al. SciClone: inferring clonal architecture and tracking the spatial and temporal patterns of tumor evolution. PLoS Comput Biol. 2014;10(8):e1003665.
32. Stephens PJ, Tarpey PS, Davies H, et al. The landscape of cancer genes and mutational processes in breast cancer. Nature. 2012;486(7403):400-404.
33. Boyle EM, Proszek PZ, Kaiser MF, et al. A molecular diagnostic approach able to detect the recurrent genetic prognostic factors typ- ical of presenting myeloma. Genes Chromosomes Cancer. 2015;54(2):91-98.
34. Favero F, Joshi T, Marquard AM, et al. Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data. Ann Oncol. 2015;26(1):64-70.
35. Rausch T, Zichner T, Schlattl A, Stutz AM, Benes V, Korbel JO. DELLY: structural vari- ant discovery by integrated paired-end and split-read analysis. Bioinformatics (Oxford, England). 2012;28(18):i333-i339.
36. Kaiser MF, Walker BA, Hockley SL, et al. A TC classification-based predictor for multi- ple myeloma using multiplexed real-time
quantitative PCR. Leukemia. 2013;
27(8):1754-1757.
37. Walker BA, Boyle EM, Wardell CP, et al.
Mutational spectrum, copy number changes, and outcome: results of a sequenc- ing study of patients with newly diagnosed myeloma. J Clin Oncol. 2015;33(33):3911- 3920.
38. Lohr JG, Stojanov P, Carter SL, et al. Widespread genetic heterogeneity in multi- ple myeloma: implications for targeted ther- apy. Cancer Cell. 2014;25(1):91-101.
39. Chapman MA, Lawrence MS, Keats JJ, et al. Initial genome sequencing and analysis of multiple myeloma. Nature. 2011; 471(7339):467-472.
40. Pawlyn C, Kaiser MF, Heuck C, et al. The Spectrum and Clinical Impact of Epigenetic Modifier Mutations in Myeloma. Clin Cancer Res. 2016;22(23):5783-5794.
41. Heuck C, Johann D, Walker BA, et al. Characterization of the Mutational Landscape of Multiple Myeloma Using Comprehensive Genomic Profiling. Blood. 2014;124(21):3418.
42. Boone DN, Qi Y, Li Z, Hann SR. Egr1 medi- ates p53-independent c-Myc-induced apop- tosis via a noncanonical ARF-dependent transcriptional mechanism. Proc Natl Acad Sci U S A. 2011;108(2):632-637.
43. Joslin JM, Fernald AA, Tennant TR, et al. Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders. Blood. 2007; 110(2):719-726.
44. Gabrea A, Martelli ML, Qi Y, et al. Secondary genomic rearrangements involv- ing immunoglobulin or MYC loci show sim- ilar prevalences in hyperdiploid and nonhy- perdiploid myeloma tumors. Genes Chromosomes Cancer. 2008;47(7):573-590.
45. Walker BA, Wardell CP, Brioli A, et al. Translocations at 8q24 juxtapose MYC with genes that harbor superenhancers resulting in overexpression and poor prognosis in myeloma patients. Blood Cancer J. 2014;4:e191.
46. Eichner R, Heider M, Fernandez-Saiz V, et al. Immunomodulatory drugs disrupt the cere- blon-CD147-MCT1 axis to exert antitumor activity and teratogenicity. Nat Med. 2016;22(7):735-743.
47. Giagounidis A, Mufti GJ, Fenaux P, Germing U, List A, MacBeth KJ. Lenalidomide as a disease-modifying agent in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes. Ann Hematol. 2014; 93(1):1-11.
48. Ito T, Ando H, Suzuki T, et al. Identification of a primary target of thalidomide terato- genicity. Science. 2010;327(5971):1345-1350.
49. Walker BA, Wardell CP, Melchor L, et al. Intraclonal heterogeneity is a critical early event in the development of myeloma and precedes the development of clinical symp- toms. Leukemia. 2014;28(2):384-390.
50. Mikulasova A, Wardell CP, Murison A, et al. The spectrum of somatic mutations in mon- oclonal gammopathy of undetermined sig- nificance indicates a less complex genomic landscape than that in multiple myeloma. Haematologica. 2017;102(9): 1617-1625.
51. Rizvi NA, Hellmann MD, Snyder A, et al. Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science. 2015;348(6230):124-128.
52. Govindan R, Ding L, Griffith M, et al. Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell. 2012;150(6):1121-1134.
53. Rasche L, Chavan SS, Stephens OW, et al. Spatial genomic heterogeneity in multiple myeloma revealed by multi-region sequenc- ing. Nat Commun. 2017;8(1):268.
54. Barlogie B, Mitchell A, van Rhee F, Epstein J, Morgan GJ, Crowley J. Curing myeloma at last: defining criteria and providing the evi- dence. Blood. 2014;124(20):3043-3051.
55. Lyu GY, Yeh YH, Yeh YC, Wang YC. Mutation load estimation model as a predic- tor of the response to cancer immunothera- py. NPJ Genom Med. 2018;3:12.
56. Kortum KM, Mai EK, Hanafiah NH, et al. Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes. Blood. 2016;128(9):1226-1233.
57. Palumbo A, Bringhen S, Kumar SK, et al. Second primary malignancies with lenalido- mide therapy for newly diagnosed myelo- ma: a meta-analysis of individual patient data. Lancet Oncol. 2014;15(3):333-342.
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