Combining gene variants with clinical characteristics improves outcome prediction in Chinese patients with myelodysplastic syndromes

References

• Schanz J, Tüchler H, Solé F, et al. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. JCO. 2012;30(8):820–829.
   PubMed Web of Science ®Google Scholar
• Malcovati L, Germing U, Kuendgen A, et al. Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. JCO. 2007;25(23):3503–3510.
   PubMed Web of Science ®Google Scholar
• Bernasconi P, Klersy C, Boni M, et al. World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes. Br J Haematol. 2007;137(3):193–205.
   PubMed Web of Science ®Google Scholar
• Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079–2088.
   PubMed Web of Science ®Google Scholar
• Della Porta MG, Tuechler H, Malcovati L, et al. Validation of WHO classification-based Prognostic Scoring System (WPSS) for myelodysplastic syndromes and comparison with the revised International Prognostic Scoring System (IPSS-R). A study of the International Working Group for Prognosis in Myelodysplasia (IWG-PM). Leukemia. 2015;29:1502–1513.
   PubMed Web of Science ®Google Scholar
• Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454–2465.
   PubMed Web of Science ®Google Scholar
• Sperling AS, Gibson CJ, Ebert BL. The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia. Nat Rev Cancer. 2017;17(1):5–19.
   PubMed Web of Science ®Google Scholar
• Kennedy JA, Ebert BL. Clinical implications of genetic mutations in myelodysplastic syndrome. JCO. 2017;35(9):968–974.
   PubMed Web of Science ®Google Scholar
• Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496–2506.
   PubMed Web of Science ®Google Scholar
• Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616–3627.
   PubMed Web of Science ®Google Scholar
• Nazha A, Narkhede M, Radivoyevitch T, et al. Incorporation of molecular data into the revised international prognostic scoring system in treated patients with myelodysplastic syndromes. Leukemia. 2016;30(11):2214–2220.
   PubMed Web of Science ®Google Scholar
• Idossa D, Lasho TL, Finke CM, et al. Mutations and karyotype predict treatment response in myelodysplastic syndromes. Am J Hematol. 2018;93(11):1420–1426.
   PubMed Web of Science ®Google Scholar
• Ballman KV. Biomarker: Predictive or Prognostic? JCO. 2015;33(33):3968–3971.
   PubMed Web of Science ®Google Scholar
• Shaffer BC, Ahn KW, Hu ZH, et al. Scoring system prognostic of outcome in patients undergoing allogeneic hematopoietic cell transplantation for myelodysplastic syndrome. JCO. 2016;34(16):1864–1871.
   PubMed Web of Science ®Google Scholar
• Hou HA, Tsai CH, Lin CC, et al. Incorporation of mutations in five genes in the revised international prognostic scoring system can improve risk stratification in the patients with myelodysplastic syndrome. Blood Cancer J. 2018;8(4):39.
   PubMedGoogle Scholar
• Bejar R, Stevenson KE, Caughey B, et al. Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation. JCO. 2014;32(25):2691–2698.
   PubMed Web of Science ®Google Scholar
• Shivarov V, Gueorguieva R, Stoimenov A, et al. DNMT3A mutation is a poor prognosis biomarker in AML: results of a meta-analysis of 4500 AML patients. Leuk Res. 2013;37(11):1445–1450.,
   PubMed Web of Science ®Google Scholar
• Thol F, Damm F, Lüdeking A, et al. Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia. JCO. 2011;29(21):2889–2896.
   PubMed Web of Science ®Google Scholar
• Hou HA, Kuo YY, Liu CY, et al. DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications. Blood. 2012;119(2):559–568.
   PubMed Web of Science ®Google Scholar
• Walter MJ, Ding L, Shen D, et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia. 2011;25(7):1153–1158.
   PubMed Web of Science ®Google Scholar
• Lin ME, Hou HA, Tsai CH, et al. Dynamics of DNMT3A mutation and prognostic relevance in patients with primary myelodysplastic syndrome. Clin Epigenet. 2018;10(1):42.
   PubMedGoogle Scholar
• Orkin SH. GATA-binding transcription factors in hematopoietic cells. Blood. 1992;80(3):575–581.
   PubMed Web of Science ®Google Scholar
• Tsai FY, Keller G, Kuo FC, et al. An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature. 1994;371(6494):221–226.
   PubMed Web of Science ®Google Scholar
• Bresnick EH, Katsumura KR, Lee HY, et al. Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies. Nucleic Acids Res. 2012;40(13):5819–5831.
   PubMed Web of Science ®Google Scholar
• Rodrigues NP, Janzen V, Forkert R, et al. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood. 2005;106(2):477–484.
   PubMed Web of Science ®Google Scholar
• Collin M, Dickinson R, Bigley V. Haematopoietic and immune defects associated with GATA2 mutation. Br J Haematol. 2015;169(2):173–187.
   PubMed Web of Science ®Google Scholar
• Hyde RK, Liu PP. GATA2 mutations lead to MDS and AML. Nat Genet. 2011;43(10):926–927.
   PubMed Web of Science ®Google Scholar
• Johnson KD, Hsu AP, Ryu M-J, et al. Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. J Clin Invest. 2012;122(10):3692–3704.
   PubMed Web of Science ®Google Scholar
• Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012–1017.
   PubMed Web of Science ®Google Scholar
• Li B, Liu J, Jia Y, et al. Clinical features and biological implications of different U2AF1 mutation types in myelodysplastic syndromes. Genes Chromosomes Cancer. 2018;57(2):80–88.
   PubMed Web of Science ®Google Scholar
• Qian J, Yao DM, Lin J, et al. U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. PLoS One. 2012;7(9):e45760.
   PubMed Web of Science ®Google Scholar