1. Schwartz SO, Critchlow J. Erythremic myelosis (Dl Guglielmo’s dis- ease): critical review with report of four cases, and comments on erythroleukemia. Blood 1952;7:765–93.
2. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. Proposals for the classification of the acute leu-kaemias. French-American-British (FAB) co-operative group. Br J Haematol 1976;33:451–8.
3. Garand R, Duchayne E, Blanchard D, Robillard N, Kuhlein E, Fenneteau O, et al. Minimally differentiated erythroleukaemia (AML M6 ‘variant’): a rare subset of AML distinct from AML M6. Groupe Francais d’Hematologie Cellulaire. Br J Haematol 1995;90:868–75.
4. Harris NL, Jaffe ES, Diebold J, Flandrin G, Muller-Hermelink HK, Vardiman J, et al. World Health Organization classification of neo- plastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. J Clin Oncol 1999;17:3835–49.
5. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009;114:937–51.
6. Lessard M, Struski S, Leymarie V, Flandrin G, Lafage-Pochitaloff M, Mozziconacci MJ, et al. Cytogenetic study of 75 erythroleukemias. Cancer Genet Cytogenet 2005;163:113–22.
7. Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson A, et al. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013;368:2059–74.
8. Tyner JW, Tognon CE, Bottomly D, Wilmot B, Kurtz SE, Savage SL, et al. Functional genomic landscape of acute myeloid leukaemia. Nature 2018;562:526–31.
9. Copelli M. Di una emopatia sistemizzata rapresentata da una imper- plasia eritroblastica (eritronatosis). Pathologica 1912;4:460.
10. Di Guglielmo G. Richerche di ematologia. I. Un caso di eritroleuce- mia. Megacariociti in circolo e loro funzione piastrinopoietico. Folia Medica (Pavia) 1917;13:386.
11. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classifi- cation of myeloid neoplasms and acute leukemia. Blood 2016;127: 2391–405.
12. Boddu P, Benton CB, Wang W, Borthakur G, Khoury JD, Pemmaraju N. Erythroleukemia-historical perspectives and recent advances in diag- nosis and management. Blood Rev 2018;32:96–105.
13. Grossmann V, Bacher U, Haferlach C, Schnittger S, Potzinger F, Weissmann S, et al. Acute erythroid leukemia (AEL) can be separated into distinct prognostic subsets based on cytogenetic and molecular genetic characteristics. Leukemia 2013;27:1940–3.
14. Cervera N, Carbuccia N, Garnier S, Guille A, Adelaide J, Murati A, et al. Molecular characterization of acute erythroid leukemia (M6-AML) using targeted next-generation sequencing. Leukemia 2016;30:966–70.
15. Ping N, Sun A, Song Y, Wang Q, Yin J, Cheng W, et al. Exome sequenc- ing identifies highly recurrent somatic GATA2 and CEBPA mutations in acute erythroid leukemia. Leukemia 2017;31:195–202.
16. Montalban-Bravo G, Benton CB, Wang SA, Ravandi F, Kadia T, Cortes J, et al. More than 1 TP53 abnormality is a dominant charac- teristic of pure erythroid leukemia. Blood 2017;129:2584–7.
17. Cervera N, Carbuccia N, Mozziconacci MJ, Adelaide J, Garnier S, Guille A, et al. Revisiting gene mutations and prognosis of ex-M6a- acute erythroid leukemia with regard to the new WHO classification. Blood Cancer J 2017;7:e594.
18. Iacobucci I, Wen J, Meggendorfer M, Choi JK, Shi L, Pounds SB, et al. Genomic subtyping and therapeutic targeting of acute erythroleuke- mia. Nat Genet 2019;51:694–704.
19. Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med 2016;374:2209–21.
20. Bernard E, Nannya Y, Hasserjian RP, Devlin SM, Tuechler H, Medina-Martinez JS, et al. Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syn- dromes. Nat Med 2020;26:1549–56.
21. Liu W, Hasserjian RP, Hu Y, Zhang L, Miranda RN, Medeiros LJ, et al. Pure erythroid leukemia: a reassessment of the entity using the 2008 World Health Organization classification. Mod Pathol 2011;24: 375–83.
22. Nechiporuk T, Kurtz SE, Nikolova O, Liu T, Jones CL, D’Alessandro A, et al. The TP53 apoptotic network is a primary mediator of resistance to BCL2 inhibition in AML cells. Cancer Discov 2019;9:910–25.
23. Ali D, Jönsson-Videsäter K, Deneberg S, Bengtzén S, Nahi H, Paul C, et al. APR-246 exhibits anti-leukemic activity and synergism with con- ventional chemotherapeutic drugs in acute myeloid leukemia cells. Eur J Haematol 2011;86:206–15.
24. Iacobucci I, Qu C, Varotto E, Janke LJ, Yang X, Seth A, et al. Modeling and targeting of erythroleukemia by hematopoietic genome editing. Blood 2021;137:1628–40.
25. Shoshani O, Brunner SF, Yaeger R, Ly P, Nechemia-Arbely Y, Kim DH, et al. Chromothripsis drives the evolution of gene amplification in cancer. Nature 2021;591:137–41.
26. Vardiman JW, Harris NL, Brunning RD. The World Health Organi- zation (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292–302.
27. Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G, et al. Landscape of genetic lesions in 944 patients with myelodysplas- tic syndromes. Leukemia 2014;28:241–7.
28. Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver muta- tions in myelodysplastic syndromes. Blood 2013;122:3616–27.
29. Makishima H, Yoshizato T, Yoshida K, Sekeres MA, Radivoyevitch T, Suzuki H, et al. Dynamics of clonal evolution in myelodysplastic syndromes. Nat Genet 2017;49:204–12.
30. Iacobucci I, Li Y, Roberts KG, Dobson SM, Kim JC, Payne-Turner D, et al. Truncating erythropoietin receptor rearrangements in acute lymphoblastic leukemia. Cancer Cell 2016;29:186–200.
31. He TC, Jiang N, Zhuang H, Quelle DE, Wojchowski DM. The extended box 2 subdomain of erythropoietin receptor is nonessential for Jak2 activation yet critical for efficient mitogenesis in FDC-ER cells. J Biol Chem 1994;269:18291–4.
32. Ogawa S. Genetics of MDS. Blood 2019;133:1049–59.
33. Lindsley RC, Mar BG, Mazzola E, Grauman PV, Shareef S, Allen SL, et al. Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood 2015;125:1367–76.
34. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, et al. PGC-1alpha-responsive genes involved in oxidative phos- phorylation are coordinately downregulated in human diabetes. Nat Genet 2003;34:267–73.
35. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A 2005;102:15545–50.
36. An X, Schulz VP, Li J, Wu K, Liu J, Xue F, et al. Global transcriptome analyses of human and murine terminal erythroid differentiation. Blood 2014;123:3466–77.
37. Ghandi M, Huang FW, Jané-Valbuena J, Kryukov GV, Lo CC, McDonald ER 3rd, et al. Next-generation characterization of the Cancer Cell Line Encyclopedia. Nature 2019;569:503–8.
38. Miyazaki Y, Kuriyama K, Higuchi M, Tsushima H, Sohda H, Imai N, et al. Establishment and characterization of a new erythropoietin- dependent acute myeloid leukemia cell line, AS-E2. Leukemia 1997; 11:1941–9.
39. Kitamura T, Tojo A, Kuwaki T, Chiba S, Miyazono K, Urabe A, et al. Identification and analysis of human erythropoietin receptors on a factor-dependent cell line, TF-1. Blood 1989;73:375–80.
40. Ito M, Hiramatsu H, Kobayashi K, Suzue K, Kawahata M, Hioki K, et al. NOD/SCID/gamma(c)(null) mouse: an excellent recipient mouse model for engraftment of human cells. Blood 2002;100:3175–82.
41. Witthuhn BA, Quelle FW, Silvennoinen O, Yi T, Tang B, Miura O, et al. JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoi- etin. Cell 1993;74:227–36.
42. Birger Y, Goldberg L, Chlon TM, Goldenson B, Muler I, Schiby G, et al. Perturbation of fetal hematopoiesis in a mouse model of Down syn- drome’s transient myeloproliferative disorder. Blood 2013;122:988–98.
43. Carmichael CL, Metcalf D, Henley KJ, Kruse EA, Di Rago L, Mifsud S, et al. Hematopoietic overexpression of the transcription factor Erg induces lymphoid and erythro-megakaryocytic leukemia. Proc Natl Acad Sci U S A 2012;109:15437–42.
44. Tang JZ, Carmichael CL, Shi W, Metcalf D, Ng AP, Hyland CD, et al. Transposon mutagenesis reveals cooperation of ETS family tran- scription factors with signaling pathways in erythro-megakaryocytic leukemia. Proc Natl Acad Sci U S A 2013;110:6091–6.
45. Fagnan A, Bagger FO, Piqué-Borràs MR, Ignacimouttou C, Caulier A, Lopez CK, et al. Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers. Blood 2020;136:698–714.
46. Ge Y, LaFiura KM, Dombkowski AA, Chen Q, Payton SG, Buck SA, et al. The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. Leukemia 2008;22:521–9.
47. Baldus CD, Liyanarachchi S, Mrózek K, Auer H, Tanner SM, Guimond M, et al. Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpres- sion of APP, ETS2, and ERG genes. Proc Natl Acad Sci U S A 2004; 101:3915–20.
48. Schwartzman O, Savino AM, Gombert M, Palmi C, Cario G, Schrappe M, et al. Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. Proc Natl Acad Sci U S A 2017;114:E4030–E9.
49. Chou DH, Vetere A, Choudhary A, Scully SS, Schenone M, Tang A, et al. Kinase-independent small-molecule inhibition of JAK-STAT signaling. J Am Chem Soc 2015;137:7929–34.
50. Bernard E, Tuechler H, Greenberg Peter L, Hasserjian Robert P, Arango Ossa Juan E, Nannya Y, et al. Molecular international prog- nostic scoring system for myelodysplastic syndromes. NEJM Evidence 2022;1:EVIDoa2200008.
51. Kiguchi T, Sato S, Usuki K, Ishiyama K, Ito Y, Suzuki T, et al. Prospec- tive comparison of azacitidine treatment between 7-days and 5-days schedules for patients with higher-risk myelodysplastic syndromes; results of Japan Adult Leukemia Study Group MDS212 Trial. Blood 2019;134:845.
52. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, et al. Frequent pathway mutations of splicing machinery in myelod- ysplasia. Nature 2011;478:64–9.
53. Shiraishi Y, Sato Y, Chiba K, Okuno Y, Nagata Y, Yoshida K, et al. An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data. Nucleic Acids Res 2013;41:e89.
54. Li Y, Roberts ND, Wala JA, Shapira O, Schumacher SE, Kumar K, et al. Patterns of somatic structural variation in human cancer genomes. Nature 2020;578:112–21.
55. Kataoka K, Nagata Y, Kitanaka A, Shiraishi Y, Shimamura T, Yasunaga JI, et al. Integrated molecular analysis of adult T cell leuke- mia/lymphoma. Nat Genet 2015;47:1304–15.
56. Kataoka K, Shiraishi Y, Takeda Y, Sakata S, Matsumoto M, Nagano S, et al. Aberrant PD-L1 expression through 3-UTR disruption in mul- tiple cancers. Nature 2016;534:402–6.
57. Yoshizato T, Nannya Y, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, et al. Genetic abnormalities in myelodysplasia and second- ary acute myeloid leukemia: impact on outcome of stem cell trans- plantation. Blood 2017;129:2347–58.
58. Shiozawa Y, Malcovati L, Galli A, Sato-Otsubo A, Kataoka K, Sato Y, et al. Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia. Nat Commun 2018; 9:3649.
59. Boeva V, Zinovyev A, Bleakley K, Vert JP, Janoueix-Lerosey I, Delattre O, et al. Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization. Bioinformatics 2011;27:268–9.
60. Love MI, Huber W, Anders S. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol 2014;15:550.
61. Townsend EC, Murakami MA, Christodoulou A, Christie AL, Koster J, DeSouza TA, et al. The public repository of xenografts enables discov- ery and randomized phase II-like trials in mice. Cancer Cell 2016;29: 574–86.
62. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a prac- tical and powerful approach to multiple testing. J R Stat Soc Series B 1995;57:289–300.
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