Marceau-Renaut A, Duployez N, Ducourneau B, Labopin M, Petit A, Rousseau A, et al. Molecular profiling defines distinct prognostic subgroups in childhood AML: a report from the French ELAM02 study group. HemaSphere. 2018;2:e31.

Article  PubMed  PubMed Central  Google Scholar 

Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson AG, et al. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368:2059–74.

Article  PubMed  Google Scholar 

Duncavage EJ, Schroeder MC, O’Laughlin M, Wilson R, MacMillan S, Bohannon A, et al. Genome sequencing as an alternative to cytogenetic analysis in myeloid cancers. N Engl J Med. 2021;384:924–35.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rasche M, Zimmermann M, Borschel L, Bourquin J-P, Dworzak M, Klingebiel T, et al. Successes and challenges in the treatment of pediatric acute myeloid leukemia: a retrospective analysis of the AML-BFM trials from 1987 to 2012. Leukemia. 2018;32:2167–77.

Article  PubMed  PubMed Central  Google Scholar 

Liang D-C, Liu H-C, Yang C-P, Jaing T-H, Hung I-J, Yeh T-C, et al. Cooperating gene mutations in childhood acute myeloid leukemia with special reference on mutations of ASXL1, TET2, IDH1, IDH2, and DNMT3A. Blood. 2013;121:2988–95.

Article  CAS  PubMed  Google Scholar 

Ho PA, Kutny MA, Alonzo TA, Gerbing RB, Joaquin J, Raimondi SC, et al. Leukemic mutations in the methylation-associated genes DNMT3A and IDH2 are rare events in pediatric AML: a report from the Children’s Oncology Group. Pediatr blood cancer. 2011;57:204–9.

Article  PubMed  PubMed Central  Google Scholar 

Bolouri H, Farrar JE, Triche T, Ries RE, Lim EL, Alonzo TA, et al. The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions. Nat Med. 2018;24:103–12.

Article  CAS  PubMed  Google Scholar 

Farrar JE, Schuback HL, Ries RE, Wai D, Hampton OA, Trevino LR, et al. Genomic profiling of pediatric acute myeloid leukemia reveals a changing mutational landscape from disease diagnosis to relapse. Cancer Res. 2016;76:2197–205.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hara Y, Shiba N, Yamato G, Ohki K, Tabuchi K, Sotomatsu M, et al. Patients aged less than 3 years with acute myeloid leukaemia characterize a molecularly and clinically distinct subgroup. Br J Haematol. 2020;188:528–39.

Article  CAS  PubMed  Google Scholar 

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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Walter C, Schneider M, Neuhoff N, von, Hanenberg H, Reinhardt D, Rasche M. Mutational landscape of pediatric acute myeloid leukemia: a report of the AML-BFM study group with a targeted NGS approach in 525 patients integrating de novo, relapsed and secondary AML. Blood. 2019;134:1398.

Article  Google Scholar 

Mendler JH, Maharry K, Radmacher MD, Mrózek K, Becker H, Metzeler KH, et al. RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures. J Clin Oncol Off J Am Soc Clin Oncol. 2012;30:3109–18.

Article  Google Scholar 

Gaidzik VI, Teleanu V, Papaemmanuil E, Weber D, Paschka P, Hahn J, et al. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features. Leukemia. 2016;30:2160–8.

Article  CAS  PubMed  Google Scholar 

Greif PA, Konstandin NP, Metzeler KH, Herold T, Pasalic Z, Ksienzyk B, et al. RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes. Haematologica. 2012;97:1909–15.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schnittger S, Dicker F, Kern W, Wendland N, Sundermann J, Alpermann T, et al. RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis. Blood. 2011;117:2348–57.

Article  CAS  PubMed  Google Scholar 

Gaidzik VI, Bullinger L, Schlenk RF, Zimmermann AS, Röck J, Paschka P, et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol Off J Am Soc Clin Oncol. 2011;29:1364–72.

Article  Google Scholar 

Haferlach T, Stengel A, Eckstein S, Perglerová K, Alpermann T, Kern W, et al. The new provisional WHO entity ‘RUNX1 mutated AML’ shows specific genetics but no prognostic influence of dysplasia. Leukemia. 2016;30:2109–12.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–405.

Article  CAS  PubMed  Google Scholar 

Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–19.

Article  PubMed  PubMed Central  Google Scholar 

Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Büchner T, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129:424–47.

Article  PubMed  PubMed Central  Google Scholar 

Döhner H, Wei AH, Appelbaum FR, Craddock C, DiNardo CD, Dombret H, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022;140:1345–77.

Article  PubMed  Google Scholar 

Swiers G, Bruijn M, de, Speck NA. Hematopoietic stem cell emergence in the conceptus and the role of Runx1. Int J Dev Biol. 2010;54:1151–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Okuda T, van Deursen J, Hiebert SW, Grosveld G, Downing JR. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell. 1996;84:321–30.

Article  CAS  PubMed  Google Scholar 

Peterson LF, Zhang D-E. The 8;21 translocation in leukemogenesis. Oncogene. 2004;23:4255–62.

Article  CAS  PubMed  Google Scholar 

Ben-Ami O, Friedman D, Leshkowitz D, Goldenberg D, Orlovsky K, Pencovich N, et al. Addiction of t(8;21) and inv(16) acute myeloid leukemia to native RUNX1. Cell Rep. 2013;4:1131–43.

Article  CAS  PubMed  Google Scholar 

Harada H, Harada Y, Tanaka H, Kimura A, Inaba T. Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. Blood. 2003;101:673–80.

Article  CAS  PubMed  Google Scholar 

Christiansen DH, Andersen MK, Pedersen-Bjergaard J. Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation. Blood. 2004;104:1474–81.

Article  CAS  PubMed  Google Scholar 

Harada H, Harada Y, Niimi H, Kyo T, Kimura A, Inaba T. High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood. 2004;103:2316–24.

Article  CAS  PubMed  Google Scholar 

Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23:166–75.

Article  CAS  PubMed  Google Scholar 

Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112:4639–45.

Article  CAS  PubMed  Google Scholar 

Preudhomme C, Warot-Loze D, Roumier C, Grardel-Duflos N, Garand R, Lai JL, et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2αB gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood. 2000;96:2862–9.

Article  CAS  PubMed  Google Scholar 

Kutny MA, Alonzo TA, Gerbing RB, Miller K, Ho P, Heerema NA, et al. RUNX1 mutations in pediatric AML: a report from the children’s oncology group. Blood. 2009;114:2614.

Article  Google Scholar 

Yamato G, Shiba N, Yoshida K, Hara Y, Shiraishi Y, Ohki K, et al. RUNX1 mutations in pediatric acute myeloid leukemia are associated with distinct genetic features and an inferior prognosis. Blood. 2018;131:2266–70.

Article  CAS  PubMed  Google Scholar 

Al-Kzayer LFY, Sakashita K, Al-Jadiry MF, Al-Hadad SA, Le Uyen TN, Liu T, et al. Frequent coexistence of RAS mutations in RUNX1-mutated acute myeloid leukemia in Arab Asian children. Pediatr Blood Cancer. 2014;61:1980–5.

Article  CAS  PubMed  Google Scholar 

Taketani T, Taki T, Takita J, Tsuchida M, Hanada R, Hongo T, et al. AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. Genes Chromosomes Cancer. 2003;38:1–7.

Article  CAS  PubMed