Page 194 - 2022_01-Haematologica-web
P. 194

A. Hecht et al.
References
1. Stieglitz E, Ward AF, Gerbing RB, et al. Phase II/III trial of a pre-transplant farnesyl trans- ferase inhibitor in juvenile myelomonocytic leukemia: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2015;62(4):629-636.
2.Dvorak CC, Satwani P, Stieglitz E, et al. Disease burden and conditioning regimens in ASCT1221, a randomized phase II trial in children with juvenile myelomonocytic leukemia: a Children's Oncology Group study. Pediatr Blood Cancer. 2018;65(7): e27034.
3. Stieglitz E, Taylor-Weiner AN, Chang TY, et al. The genomic landscape of juvenile myelomonocytic leukemia. Nat Genet. 2015;47(11):1326-1333.
4. Caye A, Strullu M, Guidez F, et al. Juvenile myelomonocytic leukemia displays muta- tions in components of the RAS pathway and the PRC2 network. Nat Genet. 2015;47(11):1334-1340.
5. Lipka DB, Witte T, Toth R, et al. RAS-path- way mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia. Nat Commun. 2017;8(1):2126.
6. Murakami N, Okuno Y, Yoshida K, et al. Integrated molecular profiling of juvenile myelomonocytic leukemia. Blood. 2018;131 (14):1576-1586.
7. Loh ML, Sakai DS, Flotho C, et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood. 2009;114 (9):1859-1863.
8. Niemeyer CM, Kang MW, Shin DH, et al. Germline CBL mutations cause develop- mental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet. 2010;42(9):794-800.
9. Shiba N, Kato M, Park MJ, et al. CBL muta- tions in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndrome. Leukemia. 2010;24(5):1090-1092.
10. Perez B, Mechinaud F, Galambrun C, et al. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet. 2010;47(10):686-691.
11.Murakami N, Okuno Y, Yoshida K, et al.
Integrated molecular profiling of juvenile myelomonocytic leukemia. Blood. 2018;131 (14):1576-1586.
12. Schönung M, Meyer J, Nöllke P, et al. International consensus definition of DNA methylation subgroups in juvenile myelomonocytic leukemia. Clin Cancer Res. 2021;27(1):158-168.
13. Locatelli F, Niemeyer CM. How I treat juve- nile myelomonocytic leukemia. Blood. 2015;125(7):1083-1090.
14.Duchmann M, Yalniz FF, Sanna A, et al. Prognostic role of gene mutations in chronic myelomonocytic leukemia patients treated with hypomethylating agents. EBioMedicine. 2018;31:174-181.
erozygosity after allogeneic hematopoietic cell rransplantation with autologous hematopoietic recovery in a child with CBL- related juvenile myelomonocytic leukemia. J Pediatr Hematol Oncol. 2021;43(3):e426- e428.
23.Stieglitz E, Mazor T, Olshen AB, et al. Genome-wide DNA methylation is predic- tive of outcome in juvenile myelomonocytic leukemia. Nat Commun. 2017;8(1):2127.
24. Choong K, Freedman MH, Chitayat D, Kelly EN, Taylor G, Zipursky A. Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol. 1999;21(6):523-527.
25. Matsuda K, Nakazawa Y, Iwashita C, et al. Myeloid progenitors with PTPN11 and nonRAS pathway gene mutations are refrac- tory to treatment with 6-mercaptopurine in juvenile myelomonocytic leukemia. Leukemia. 2014;28(7):1545-1548.
26. Javadi M, Richmond TD, Huang K, Barber DL. CBL linker region and RING finger mutations lead to enhanced granulocyte- macrophage colony-stimulating factor (GM- CSF) signaling via elevated levels of JAK2 and LYN. J Biol Chem. 2013;288(27):19459- 19470.
27. Belizaire R, Koochaki SHJ, Udeshi ND, et al. CBL mutations promote activation of PI3K/AKT signaling via LYN kinase. bioRxiv. 2020 Apr 14. doi: 10.1182/ blood.2020006528[preprint, not peer- reviewed].
28.Bunda S, Kang MW, Sybingco SS, et al. Inhibition of SRC corrects GM-CSF hyper- sensitivity that underlies juvenile myelomonocytic leukemia. Cancer Res. 2013;73(8):2540-2550.
29. Bunda S, Qin K, Kommaraju K, Heir P, Ohh M. Juvenile myelomonocytic leukaemia- associated mutation in Cbl promotes resistance to apoptosis via the Lyn- PI3K/AKT pathway. Oncogene. 2015;34 (6):789-797.
30.Tasian SK, Casas JA, Posocco D, et al. Mutation-specific signaling profiles and kinase inhibitor sensitivities of juvenile myelomonocytic leukemia revealed by induced pluripotent stem cells. Leukemia. 2019;33(1):181-190.
15.
Itzykson R, Kosmider O, Renneville A, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol. 2013;31(19):2428-2436.
16. Jankowska AM, Makishima H, Tiu RV, et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood. 2011;118(14): 3932-3941.
17. Chan RJ, Cooper T, Kratz CP, Weiss B, Loh ML. Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium. Leuk Res. 2009;33(3):355-362.
18. Hecht A, Meyer J, Chehab FF, et al. Molecular assessment of pretransplant chemotherapy in the treatment of juvenile myelomonocytic leukemia. Pediatr Blood Cancer. 2019;66(11):e27948.
19. Niemeyer CM, Loh ML, Cseh A, et al. Criteria for evaluating response and out- come in clinical trials for children with juve- nile myelomonocytic leukemia. Haematologica. 2015;100(1):17-22.
20. Kales SC, Ryan PE, Nau MM, Lipkowitz S. Cbl and human myeloid neoplasms: the Cbl oncogene comes of age. Cancer Res. 2010;70(12):4789-4794.
21.Strullu M, Caye A, Cassinat B, et al. In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signa- ture of juvenile myelo-monocytic leukemia. Leukemia. 2013;27(12):2404-2407.
22. Oshrine B. Primary graft failure but treat- ment success: a case of reversion to het-
186
haematologica | 2022; 107(1)


































































































   192   193   194   195   196