The characteristics and clinical prognosis analysis of ASXL1 mutations in Chinese adult patients with primary cytogenetically normal acute myeloid leukemia by next-generation sequencing

References

• Fisher CL, Berger J, Randazzo F, et al. A human homolog of additional sex combs, Additional Sex Combs-Like 1, maps to chromosome 20q11. Gene. 2003;306:115–126.
   PubMed Web of Science ®Google Scholar
• Fisher CL, Pineault N, Brookes C, et al. Loss-of-function additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood. 2010;115(1):38–46.
   PubMed Web of Science ®Google Scholar
• Fisher CL, Randazzo F, Humphries RK, et al. Characterization of Asxl1, a murine homolog of additional sex combs, and analysis of the asx-like gene family. Gene. 2006;369:109–118.
   PubMed Web of Science ®Google Scholar
• Gelsi-Boyer V, Trouplin V, Adélaïde J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788–800.
   PubMed Web of Science ®Google Scholar
• Carbuccia N, Murati A, Trouplin V, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23(11):2183–2186.
   PubMed Web of Science ®Google Scholar
• Boultwood J, Perry J, Pellagatti A, et al. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. 2010;24(5):1062–1065.
   PubMed Web of Science ®Google Scholar
• Boultwood J, Perry J, Zaman R, et al. High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia. 2010;24(6):1139–1145.
   PubMed Web of Science ®Google Scholar
• Sugimoto Y, Muramatsu H, Makishima H, et al. Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. Br J Haematol. 2010;150(1):83–87.
   PubMed Web of Science ®Google Scholar
• Gelsi-Boyer V, Trouplin V, Roquain J, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol. 2010;151(4):365–375.
   PubMed Web of Science ®Google Scholar
• Makishima H, Jankowska AM, McDevitt MA, et al. CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood. 2011;117(21):e198–e206.
   PubMed Web of Science ®Google Scholar
• Brecqueville M, Rey J, Bertucci F, et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer. 2012;51(8):743–755.
   PubMed Web of Science ®Google Scholar
• Gelsi-Boyer V, Brecqueville M, Devillier R, et al. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. 2012;5:12.
   PubMed Web of Science ®Google Scholar
• Abdel-Wahab O, Dey A. The ASXL-BAP1 axis: new factors in myelopoiesis, cancer and epigenetics. Leukemia. 2013;27(1):10–15.
   PubMed Web of Science ®Google Scholar
• Chen TC, Hou HA, Chou WC, et al. Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome. Blood Cancer J. 2014;4(1):e177.
   PubMedGoogle Scholar
• Huether R, Dong L, Chen X, et al. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nat Commun. 2014;5:3630.
   PubMed Web of Science ®Google Scholar
• Abdel-Wahab O, Adli M, LaFave LM, et al. ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. Cancer Cell. 2012;22(2):180–193.
   PubMed Web of Science ®Google Scholar
• Wang J, Li Z, He Y, et al. Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice. Blood. 2014;123(4):541–553.
   PubMed Web of Science ®Google Scholar
• Döhner H, Estey E, Grimwade D, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424–447.
   PubMed Web of Science ®Google Scholar
• Carbuccia N, Trouplin V, Gelsi-Boyer V, et al. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. Leukemia. 2010;24(2):469–473.
   PubMed Web of Science ®Google Scholar
• Chou WC, Huang HH, Hou HA, et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood. 2010;116(20):4086–4094.
   PubMed Web of Science ®Google Scholar
• Metzeler KH, Becker H, Maharry K, et al. ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN favorable genetic category. Blood. 2011;118(26):6920–6929.
   PubMed Web of Science ®Google Scholar
• Pratcorona M, Abbas S, Sanders MA, et al. Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value. Haematologica. 2012;97(3):388–392.
   PubMed Web of Science ®Google Scholar
• Patel JP, Gonen M, Figueroa ME, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012;366(12):1079–1089.
   PubMed Web of Science ®Google Scholar
• Schnittger S, Eder C, Jeromin S, et al. ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia. 2013;27(1):82–91.
   PubMed Web of Science ®Google Scholar
• El-Sharkawi D, Ali A, Evans CM, et al. ASXL1 mutations are infrequent in young patients with primary acute myeloid leukemia and their detection has a limited role in therapeutic risk stratification. Leuk Lymphoma. 2014;55(6):1326–1331.
   PubMed Web of Science ®Google Scholar
• Paschka P, Schlenk RF, Gaidzik VI, et al. ASXL1 mutations in younger adult patients with acute myeloid leukemia: a study by the German-Austrian acute myeloid leukemia study group. Haematologica. 2015;100(3):324–330.
   PubMed Web of Science ®Google Scholar
• Fan Y, Liao L, Liu Y, et al. Risk factors affect accurate prognosis in ASXL1-mutated acute myeloid leukemia. Cancer Cell Int. 2021;21(1):526.
   PubMed Web of Science ®Google Scholar
• Richardson DR, Swoboda DM, Moore DT, et al. Genomic characteristics and prognostic significance of co-mutated ASXL1/SRSF2 acute myeloid leukemia. Am J Hematol. 2021;96(4):462–470.
   PubMed Web of Science ®Google Scholar
• Sasaki K, Kanagal-Shamanna R, Montalban-Bravo G, et al. Impact of the variant allele frequency of ASXL1, DNMT3A, JAK2, TET2, TP53, and NPM1 on the outcomes of patients with newly diagnosed acute myeloid leukemia. Cancer. 2020;126(4):765–774.
   PubMed Web of Science ®Google Scholar