https://orcid.org/0000-0003-0884-995X
References
- Duployez N, Fenwarth L. Controversies about germline RUNX1 missense variants. Leuk Lymphoma. 2020;61(2):497–499.
- Koh CP, Wang CQ, Ng CEL, et al. RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes. Leukemia. 2013;27(9):1793–1802.
- Huang G, Zhao X, Wang L, et al. The ability of MLL to bind RUNX1 and methylate H3K4 at PU.1 regulatory regions is impaired by MDS/AML-associated RUNX1/AML1 mutations. Blood. 2011;118(25):6544–6552.
- Garcia JS, Madzo J, Cooper D, et al. Pre-donor evaluation of an HLA matched sibling identifies a novel inherited RUNX1 mutation encoding a missense mutation found outside of the RUNT domain in familial platelet disorder. Blood. 2010;116(21):2709–2709.
- Prieto-Conde MI, Labrador J, Hermida G, et al. Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder. Leuk Lymphoma. 2020;61(1):181–184.
- Langabeer SE, Gale RE, Rollinson SJ, et al. Mutations of the AML1 gene in acute myeloid leukemia of FAB types M0 and M7. Genes Chromosom Cancer. 2002;34(1):24–32.
- Bejar R, Steensma DP. Recent developments in myelodysplastic syndromes. Blood. 2014;124(18):2793–2803.
- Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. New Eng J Med. 2013;368(22):2059–2074.
- Brown AL, Arts P, Carmichael CL, et al. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood. 2020;4(6):1131–1144.
- Preudhomme C, Renneville A, Bourdon V, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood. 2009;113(22):5583–5587.
- Antony-Debre I, Duployez N, Bucci M, et al. Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. Leukemia. 2016;30(4):999–1002.
- Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424–2433.
- Matsuno N, Osato M, Yamashita N, et al. Dual mutations in the AML1 and FLT3 genes are associated with leukemogenesis in acute myeloblastic leukemia of the M0 subtype. Leukemia. 2003;17(12):2492–2499.
- Gaidzik VI, Bullinger L, Schlenk RF, et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol. 2011;29(10):1364–1372.
- Mendler JH, Maharry K, Becker H, et al. In rare acute myeloid leukemia patients harbouring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline. Haematologica. 2013;98(8):e92–94.