Issa JP. The myelodysplastic syndrome as a prototypical epigenetic disease. Blood. 2013;121:3811–7.
Article
CAS
Google Scholar
Astolfi A, Fiore M, Melchionda F, Indio V, Bertuccio SN, Pession A. BCOR involvement in cancer. Epigenomics. 2019;11:835–55.
Article
CAS
Google Scholar
Kelly MJ, So J, Rogers AJ, Gregory G, Li J, Zethoven M, et al. Bcor loss perturbs myeloid differentiation and promotes leukaemogenesis. Nat Commun. 2019;10:1347.
Article
Google Scholar
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, et al. Chronic Myeloid Disorders Working Group of the international cancer genome consortium. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365:1384–95.
Article
CAS
Google Scholar
Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478:64–9.
Article
CAS
Google Scholar
Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122:3616–27.
Article
CAS
Google Scholar
Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28:241–7.
Article
CAS
Google Scholar
Damm F, Chesnais V, Nagata Y, Yoshida K, Scourzic L, Okuno Y, et al. BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders. Blood. 2013;122:3169–77.
Article
CAS
Google Scholar
Terada K, Yamaguchi H, Ueki T, Usuki K, Kobayashi Y, Tajika K, et al. Usefulness of BCOR gene mutation as a prognostic factor in acute myeloid leukemia with intermediate cytogenetic prognosis. Genes Chromosomes Cancer. 2018;57:401–8.
Article
CAS
Google Scholar
Abuhadra N, Mukherjee S, Al-Issa K, Usuki K, Kobayashi Y, Tajika K, et al. BCOR and BCORL1 mutations in myelodysplastic syndromes (MDS): clonal architecture and impact on outcomes. Leuk Lymphoma. 2019;60:1587–90.
Article
Google Scholar
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.
Article
CAS
Google Scholar
Cheson BD, Greenberg PL, Bennett JM, Lowenberg B, Wijermans PW, Nimer SD, et al. Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia. Blood. 2006;108:419–25.
Article
CAS
Google Scholar
Eisfeld A-K, Mrózek K, Kohlschmidt J, Nicolet D, Orwick S, Walker CJ, et al. The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with deovo acute myeloid leukemia. Leukemia. 2017;31:2211–8.
Article
CAS
Google Scholar
Bolli N, Manes N, McKerrell T, Chi J, Park N, Gundem G, et al. Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol. Haematologica. 2015;100:214–22.
Article
CAS
Google Scholar
Grossmann V, Tiacci E, Holmes AB, Kohlmann A, Martelli MP, Kern W, et al. Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood. 2011;118:6153–63.
Article
CAS
Google Scholar
Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371:2488–98.
Article
Google Scholar
Wu L, Shi W, Li X, Chang C, Xu F, He Q, et al. High expression of the human equilibrative nucleoside transporter 1 gene predicts a good response to decitabine in patients with myelodysplastic syndrome. J Transl Med. 2016;14:66.
Article
Google Scholar
Xu F, Zhu Y, He Q, Wu LY, Zhang Z, Shi WH, et al. Identification of micro RNA-regulated pathways using an integration of microRNA-mRNA microarray and bioinformatics analysis in CD34+ cells of myelodysplastic syndromes. Sci Rep. 2016;6:32232.
Article
CAS
Google Scholar
Chang C, Zhao Y, Xu F, Guo J, Zhang Z, He Q, et al. TP53 mutations predict decitabine-induced complete responses in patients with myelodysplastic syndromes. Br J Haematol. 2017;176:600–8.
Article
CAS
Google Scholar
Cao Q, Gearhart MD, Gery S, Shojaee S, Yang H, Sun H, et al. BCOR regulates myeloid cell proliferation and differentiation. Leukemia. 2016;30:1155–65.
Article
CAS
Google Scholar
Zeidan AM, Kharfan-Dabaja MA, Komrokji RS. Beyond hypomethylating agents failure in patients with myelodysplastic syndromes. Curr Opin Hematol. 2014;21:123–30.
Article
CAS
Google Scholar
Zeidan AM, Stahl M, Hu X, Wang R, Huntington SF, Podoltsev NA, et al. Long-term survival of older patients with MDS treated with HMA therapy without subsequent stem cell transplantation. Blood. 2018;131:818–21.
Article
CAS
Google Scholar
Jabbour E, Garcia-Manero G, Batty N, Shan J, et al. Outcome of patients with myelodysplastic syndrome after failure of decitabine therapy. Cancer. 2010;116:3830–4.
Article
CAS
Google Scholar
Prébet T, Gore SD, Esterni B, Gardin C, Itzykson R, Thepot S, et al. Outcome of high-risk myelodysplastic syndrome after azacitidine treatment failure. J Clin Oncol. 2011;29:3322–7.
Article
Google Scholar
Bewersdorf JP, Zeidan AM. Management of higher risk myelodysplastic syndromes after hypomethylating agents failure: are we about to exit the black hole? Expert Rev Hematol. 2020;13:1131–42.
Article
CAS
Google Scholar
Savona MR, Odenike O, Amrein PC, Steensma DP, DeZern AE, Michaelis LC, et al. An oral fixed-dose combination of decitabine and cedazuridine in myelodysplastic syndromes: a multicentre, open-label, dose-escalation, phase 1 study. Lancet Haematol. 2019;6:e194-203.
Article
Google Scholar
Ball BJ, Famulare CA, Stein EM, Tallman MS, Derkach A, Roshal M, et al. Venetoclax and hypomethylating agents (HMAs) induce high response rates in MDS, including patients after HMA therapy failure. Blood Adv. 2020;4:2866–70.
Article
Google Scholar
Wu L, Li X, Xu F, Wu D, He Q, Song L, et al. NPM1 mutation with DNMT3A wild type defines a subgroup of MDS with particularly favourable outcomes after decitabine therapy. Br J Haematol. 2020;189(5):982–4.
Article
CAS
Google Scholar