Page 48 - 2020_11-Haematologica-web
P. 48

H. Inaba and C.G. Mullighan
and leukemia co-operative study groups worldwide who con- tributed samples and expertise to many of the studies described in this review. C.G.M. was supported by the National Cancer Institute R35 CA197695 Outstanding Investigator Award, a St. Baldrick's Foundation Robert J. Arceci Innovation Award, and the Henry Schueler 41&9 Foundation. H.I. and C.G.M.
were supported by the National Institutes of Health grant CA21765 and by ALSAC. The content is solely the responsi- bility of the authors and does not necessarily represent the offi- cial views of the National Institutes of Health. The authors thank Keith A. Laycock, PhD, ELS, for scientific editing of the manuscript.
References
1. Moricke A, Zimmermann M, Valsecchi MG, et al. Dexamethasone versus prednisone in induction treatment of pediatric ALL: results of the randomized trial AIEOP-BFM ALL 2000. Blood. 2016;127(17):2101-2112.
2.Larsen EC, Devidas M, Chen S, et al. Dexamethasone and high-dose methotrex- ate improve outcome for children and young adults with high-risk B-acute lymphoblastic leukemia: a report from Children's Oncology Group Study AALL0232. J Clin Oncol. 2016;34(20):2380-2388.
3.Maloney KW, Devidas M, Wang C, et al. Outcome in children with standard-risk B- cell acute lymphoblastic leukemia: results of Children's Oncology Group Trial AALL0331. J Clin Oncol. 2020;38(6):602- 612.
4. Winter SS, Dunsmore KP, Devidas M, et al. Improved survival for children and young adults with T-lineage acute lymphoblastic leukemia: results from the Children's Oncology Group AALL0434 Methotrexate Randomization. J Clin Oncol. 2018;36 (29):2926-2934.
5. Place AE, Stevenson KE, Vrooman LM, et al. Intravenous pegylated asparaginase versus intramuscular native Escherichia coli L- asparaginase in newly diagnosed childhood acute lymphoblastic leukaemia (DFCI 05- 001): a randomised, open-label phase 3 trial. Lancet Oncol. 2015;16(16):1677-1690.
6. Pieters R, de Groot-Kruseman H, Van der Velden V, et al. Successful therapy reduction and intensification for childhood acute lym- phoblastic leukemia based on minimal resid- ual disease monitoring: Study ALL10 from the Dutch Childhood Oncology Group. J Clin Oncol. 2016;34(22):2591-2601.
7.Vora A, Goulden N, Mitchell C, et al. Augmented post-remission therapy for a minimal residual disease-defined high-risk subgroup of children and young people with clinical standard-risk and intermediate-risk acute lymphoblastic leukaemia (UKALL 2003): a randomised controlled trial. Lancet Oncol. 2014;15(8):809-818.
8.Toft N, Birgens H, Abrahamsson J, et al. Results of NOPHO ALL2008 treatment for patients aged 1-45 years with acute lym- phoblastic leukemia. Leukemia. 2018;32(3):606-615.
9. Jeha S, Pei D, Choi J, et al. Improved CNS control of childhood acute lymphoblastic leukemia without cranial irradiation: St Jude Total Therapy Study 16. J Clin Oncol. 2019;37(35):3377-3391.
10. Holmfeldt L, Wei L, Diaz-Flores E, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013;45(3):242-252.
11.Moriyama T, Metzger ML, Wu G, et al. Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. Lancet Oncol. 2015;16(16):1659-1666.
12. Shah S, Schrader KA, Waanders E, et al. A
recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblas- tic leukemia. Nat Genet. 2013;45(10):1226- 1231.
13. Noetzli L, Lo RW, Lee-Sherick AB, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocyto- sis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47(5):535-538.
14. Mullighan CG, Goorha S, Radtke I, et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature. 2007;446(7137):758-764.
15. Gu Z, Churchman ML, Roberts KG, et al. PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia. Nat Genet. 2019;51 (2):296-307.
16. Churchman ML, Qian M, Te Kronnie G, et al. Germline genetic IKZF1 variation and predisposition to childhood acute lym- phoblastic leukemia. Cancer Cell. 2018;33 (5):937-948.
17. Kuehn HS, Boisson B, Cunningham-Rundles C, et al. Loss of B cells in patients with het- erozygous mutations in IKAROS. N Engl J Med. 2016;374(11):1032-1043.
18.Mullighan CG, Miller CB, Radtke I, et al. BCR-ABL1 lymphoblastic leukaemia is char- acterized by the deletion of Ikaros. Nature. 2008;453(7191):110-114.
19. Mullighan CG, Su X, Zhang J, et al. Deletion of IKZF1 and prognosis in acute lymphoblas- tic leukemia. N Engl J Med. 2009;360(5):470- 480.
20. Zhang J, McCastlain K, Yoshihara H, et al. Deregulation of DUX4 and ERG in acute lymphoblastic leukemia. Nat Genet. 2016;48(12):1481-1489.
21.Brown AL, Arts P, Carmichael CL, et al. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation pro- file unique to germline predisposed AML. Blood Adv. 2020;4(6):1131-1144.
22. Feurstein S, Godley LA. Germline ETV6 mutations and predisposition to hematolog- ical malignancies. Int J Hematol. 2017;106 (2):189-195.
23.Gocho Y, Yang JJ. Genetic defects in hematopoietic transcription factors and pre- disposition to acute lymphoblastic leukemia. Blood. 2019;134(10):793-797.
24. Papaemmanuil E, Hosking FJ, Vijayakrishnan J, et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1006-1010.
25.Trevino LR, Yang W, French D, et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1001-1005.
26. Perez-Andreu V, Roberts KG, Harvey RC, et al. Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse. Nat Genet. 2013;45(12):1494-1498.
27. Qian M, Xu H, Perez-Andreu V, et al. Novel susceptibility variants at the ERG locus for childhood acute lymphoblastic leukemia in Hispanics. Blood. 2019;133(7):724-729.
28. Qian M, Zhao X, Devidas M, et al. Genome-
wide association study of susceptibility loci for T-cell acute lymphoblastic leukemia in children. J Natl Cancer Inst. 2019;111 (12):1350-1357.
29. de Smith AJ, Lavoie G, Walsh KM, et al. Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children. Genes Chromosomes Cancer. 2019;58(10):723-730.
30. Pouliot GP, Degar J, Hinze L, et al. Fanconi- BRCA pathway mutations in childhood T- cell acute lymphoblastic leukemia. PLoS One. 2019;14(11):e0221288.
31. Winer P, Muskens IS, Walsh KM, et al. Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia. Blood Adv. 2020;4(4):672-675.
32. Greaves M. Pre-natal origins of childhood leukemia. Rev Clin Exp Hematol. 2003;7(3):233-245.
33. Greaves MF, Maia AT, Wiemels JL, Ford AM. Leukemia in twins: lessons in natural histo- ry. Blood. 2003;102(7):2321-2333.
34.Ma Y, Dobbins SE, Sherborne AL, et al. Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia. Proc Natl Acad Sci U S A. 2013;110(18): 7429-7433.
35. Bueno C, Tejedor JR, Bashford-Rogers R, et al. Natural history and cell of origin of TC F3-ZN F384 and PTPN11 mutations in monozygotic twins with concordant BCP- ALL. Blood. 2019;134(11):900-905.
36. Roberts KG, Mullighan CG. The biology of B-progenitor acute lymphoblastic leukemia. Cold Spring Harb Perspect Med. 2020;10(7):a034835.
37. Paulsson K, Lilljebjorn H, Biloglav A, et al. The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia. Nat Genet. 2015;47(6):672-676.
38.Carroll AJ, Shago M, Mikhail FM, et al. Masked hypodiploidy: hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: a report from the Children's Oncology Group. Cancer Genet. 2019;238(62-68).
39. Moorman AV, Robinson H, Schwab C, et al. Risk-directed treatment intensification sig- nificantly reduces the risk of relapse among children and adolescents with acute lym- phoblastic leukemia and intrachromosomal amplification of chromosome 21: a compar- ison of the MRC ALL97/99 and UKALL2003 trials. J Clin Oncol. 2013;31(27):3389-3396.
40. Hunger SP, Galili N, Carroll AJ, Crist WM, Link MP, Cleary ML. The t(1;19)(q23;p13) results in consistent fusion of E2A and PBX1 coding sequences in acute lymphoblastic leukemias. Blood. 1991;77(4):687-693.
41. Crist WM, Carroll AJ, Shuster JJ, et al. Poor prognosis of children with pre-B acute lym- phoblastic leukemia is associated with the t(1;19)(q23;p13): a Pediatric Oncology Group study. Blood. 1990;76(1):117-122.
42. Slayton WB, Schultz KR, Kairalla JA, et al. Dasatinib plus intensive chemotherapy in children, adolescents, and young adults with
2536
haematologica | 2020; 105(11)


































































































   46   47   48   49   50