Page 128 - 2019_07 resto del Mondo-web
P. 128

M. Zaliova et al.
Prognostic value of rare IKZF1 deletion in
childhood B-cell precursor acute lym- phoblastic leukemia: an international collab- orative study. Leukemia. 2016;30(1):32-38.
17. Stanulla M, Dagdan E, Zaliova M, et al. IKZF1(plus) Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia. J Clin Oncol. 2018;36(12):1240-1249.
18. Hertzberg L, Vendramini E, Ganmore I, et al. Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is asso- ciated with mutated JAK2: a report from the International BFM Study Group. Blood. 2010;115(5):1006-1017.
19. Mullighan CG, Collins-Underwood JR, Phillips LA, et al. Rearrangement of CRLF2 in B-progenitor- and Down syndrome-asso- ciated acute lymphoblastic leukemia. Nat Genet. 2009;41(11):1243-1246.
20. Perentesis JP, Bhatia S, Boyle E, et al. RAS oncogene mutations and outcome of thera- py for childhood acute lymphoblastic leukemia. Leukemia. 2004;18(4):685-692.
21. Roberts KG, Li Y, Payne-Turner D, et al. Targetable kinase-activating lesions in Ph- like acute lymphoblastic leukemia. N Engl J Med. 2014;371(11):1005-1015.
22. Russell LJ, Capasso M, Vater I, et al. Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid trans- formation in B-cell precursor acute lym- phoblastic leukemia. Blood. 2009; 114(13):2688-2698.
23. Zhang J, Mullighan CG, Harvey RC, et al. Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2011; 118(11):3080-3087.
24. Holmfeldt L, Wei L, Diaz-Flores E, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013;45(3):242-252.
25. Paulsson K, Lilljebjorn H, Biloglav A, et al. The genomic landscape of high hyper- diploid childhood acute lymphoblastic leukemia. Nat Genet. 2015;47(6):672-676.
26. van der Veer A, Waanders E, Pieters R, et al. Independent prognostic value of BCR-ABL1- like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B- cell precursor ALL. Blood. 2013; 122(15):2622-2629.
27. Andersson AK, Ma J, Wang J, et al. The land- scape of somatic mutations in infant MLL- rearranged acute lymphoblastic leukemias. Nat Genet. 2015;47(4):330-337.
28. Boer JM, Steeghs EM, Marchante JR, et al. Tyrosine kinase fusion genes in pediatric BCR-ABL1-like acute lymphoblastic leukemia. Oncotarget. 2017;8(3):4618-4628.
29. Zaliova M, Moorman AV, Cazzaniga G, et al. Characterization of leukemias with ETV6-ABL1 fusion. Haematologica. 2016; 101(9):1082-1093.
30. Reshmi SC, Harvey RC, Roberts KG, et al. Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group. Blood. 2017; 129(25):3352-3361.
31. Zaliova M, Zimmermannova O, Dorge P, et al. ERG deletion is associated with CD2 and attenuates the negative impact of IKZF1 deletion in childhood acute lymphoblastic leukemia. Leukemia. 2014; 28(1):182-185.
32. Clappier E, Auclerc MF, Rapion J, et al. An intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions. Leukemia. 2014;28(1):70-77.
33. Kim D, Salzberg SL. TopHat-Fusion: an algo- rithm for discovery of novel fusion tran- scripts. Genome Biol. 2011;12(8):R72.
34. McPherson A, Hormozdiari F, Zayed A, et al. deFuse: an algorithm for gene fusion dis- covery in tumor RNA-Seq data. PLoS Comput Biol. 2011;7(5):e1001138.
35. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler trans- form. Bioinformatics. 2010;26(5):589-595.
36. Dobin A, Davis CA, Schlesinger F, et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013;29(1):15-21.
37. Koboldt DC, Zhang Q, Larson DE, et al. VarScan 2: somatic mutation and copy num- ber alteration discovery in cancer by exome sequencing. Genome Res. 2012; 22(3):568- 576.
38. Anders S, McCarthy DJ, Chen Y, et al. Count-based differential expression analysis of RNA sequencing data using R and Bioconductor. Nat Protoc. 2013;8(9):1765- 1786.
Johansson B, Paulsson K. Novel gene targets detected by genomic profiling in a consecu- tive series of 126 adults with acute lym- phoblastic leukemia. Haematologica. 2015;100(1):55-61.
41. Schwab C, Nebral K, Chilton L, et al. Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lym- phoblastic leukemia? Blood Adv. 2017; 1(19):1473-1477.
42. Morak M, Attarbaschi A, Fischer S, et al. Small sizes and indolent evolutionary dynamics challenge the potential role of P2RY8-CRLF2-harboring clones as main relapse-driving force in childhood ALL. Blood. 2012;120(26):5134-5142.
43. Lukes J, Potuckova E, Sramkova L, et al. Two novel fusion genes, AIF1L-ETV6 and ABL1- AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with pre- natal origin. Genes Chromosomes Cancer. 2018;57(9):471-477.
44. Gocho Y, Kiyokawa N, Ichikawa H, et al. A novel recurrent EP300-ZNF384 gene fusion in B-cell precursor acute lymphoblastic leukemia. Leukemia. 2015;29(12):2445- 2448.
45. Shago M, Abla O, Hitzler J, Weitzman S, Abdelhaleem M. Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion. Pediatr Blood Cancer. 2016;63(11):1915-1921.
46. Alexander TB, Gu Z, Iacobucci I, et al. The genetic basis and cell of origin of mixed phe- notype acute leukaemia. Nature. 2018; 562(7727):373-379.
47. Coyaud E, Struski S, Prade N, et al. Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study. Blood. 2010; 115(15):3089-3097.
48. Nebral K, Denk D, Attarbaschi A, et al. Incidence and diversity of PAX5 fusion genes in childhood acute lymphoblastic leukemia. Leukemia. 2009;23(1):134-143.
49. Stasevich I, Inglott S, Austin N, et al. PAX5 alterations in genetically unclassified child- hood Precursor B-cell acute lymphoblastic leukaemia. Br J Haematol. 2015;171(2):263-
39. Love MI, Huber W, Anders S. Moderated
estimation of fold change and dispersion for 272.
RNA-seq data with DESeq2. Genome Biol.
2014;15(12):550.
40. Safavi S, Hansson M, Karlsson K, Biloglav A,
50. Atlas of Genetics and Cytogenetics in Oncology and Haematology. Available from: http://AtlasGenetics Oncology.org
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