[1] Arber DA, Orazi A, Hasserjian R, et al.The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia[J]. Blood,2016, 127(20):2391-2405.
[2] Malcovati L, Papaemmanuil E, Bowen DT, et al.Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms[J]. Blood,2011,118(24):6239-6246.
[3] 张丽, 吴修进, 关蒲骏, 等. 第二代测序技术在血液系统疾病临床应用中的研究进展[J]. 中华血液学杂志,2015,36(8):716-720.
[4] Mardis ER, Ding L, Dooling DJ, el al. Recurring mutations found by sequencing an acute myeloid leukemia genome[J]. N Engl J Med,2009,361(11):1058-1066.
[5] Ley TJ, Ding L, Walter MJ, et al.DNMT3A mutations in acute myeloid leukemia[J]. N Engl J Med,2010,363(25):2424-2433.
[6] Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia[J]. N Engl J Med,2013,368(22):2059-2074.
[7] Nybakken GE, Bagg A.The genetic basis and expanding role of molecular analysis in the diagnosis, prognosis, and therapeutic design for myelodysplastic syndromes[J]. J Mol Diagn,2014,16(2):145-158.
[8] Bejar R, Stevenson K, Abdel-Wahab O, et al.Clinical effect of point mutations in myelodysplastic syndromes[J]. N Engl J Med,2011,364(26):2496-2506.
[9] Haferlach T, Nagata Y, Grossmann V, et al.Landscape of genetic lesions in 944 patients with myelodysplastic syndromes[J]. Leukemia,2014,28(2):241-247.
[10] Papaemmanuil E, Cazzola M, Boultwood J, et al.Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts[J]. N Engl J Med,2011,365(15):1384-1395.
[11] Papaemmanuil E, Gerstung M, Malcovati L, et al.Clinical and biological implications of driver mutations in myelodysplastic syndromes[J]. Blood,2013,122(22):3616-3627.
[12] Walter MJ, Shen D, Shao J, et al.Clonal diversity of recurrently mutated genes in myelodysplastic syndromes[J]. Leukemia,2013,27(6):1275-1282.
[13] Yoshida K, Sanada M, Shiraishi Y, et al.Frequent pathway mutations of splicing machinery in myelodysplasia[J]. Nature,2011,478(7367):64-69.
[14] Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes[J]. Blood,1997,89(6):2079-2088.
[15] Jaiswal S, Fontanillas P, Flannick J, et al.Age-related clonal hematopoiesis associated with adverse outcomes[J]. N Engl J Med,2014,371(26):2488-2498.
[16] Grimwade D, Vyas P, Freeman S.Assessment of minimal residual disease in acute myeloid leukemia[J]. Curr Opin Oncol,2010,22(6):656-663.
[17] Warren M, Luthra R, Yin CC, et al.Clinical impact of change of FLT3 mutation status in acute myeloid leukemia patients[J]. Mod Pathol,2012,25(10):1405-1412.
[18] Mancini M, Hasan SK, Ottone T, et al. Two novel me-thods for rapid detection and quantification of DNMT3A R882 mutations in acute myeloid leukemia[J]. J Mol Diagn,2015 Mar,17(2):179-184.
[19] Salipante SJ, Fromm JR, Shendure J, et al.Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing[J]. Mod Pathol,2014,27(11):1438-1446.
[20] Wu D, Sherwood A, Fromm JR, et al.High-throughput sequencing detects minimal residual disease in acute T lymphoblastic leukemia[J]. Sci Transl Med,2012,4(134):134-163.
[21] Spencer DH, Tyagi M, Vallania F, et al.Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data[J]. J Mol Diagn,2014,16(1):75-88.
[22] Spencer DH, Abel HJ, Lockwood CM, et al.Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data[J]. J Mol Diagn,2013,15(1):81-93.
[23] Peng Q, Vijaya Satya R, Lewis M, et al.Reducing amplification artifacts in high multiplex amplicon sequencing by using molecular barcodes[J]. BMC Genomics,2015,16:589.
