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1、二代测序技术在血液肿瘤中二代测序技术在血液肿瘤中的应用的应用二代测序技术概述二代测序技术概述二代测序在血液肿瘤中的应用二代测序在血液肿瘤中的应用及病例分享及病例分享12一代测序一代测序SangerSanger测序测序优点：准确性高达99.999%，“金标准”缺点：通量低，成本高二代测序二代测序高通量高通量Trends Genet.2014 Sep;30(9):418-26成本低成本低灵敏度高灵敏度高缺点：读长短缺点：读长短二代测序二代测序技术平台技术平台Roche 454Illumina-SolexaLife-ion torrentNGSNGS工作流程工作流程Mutagenesis.2014
2、Sep;29(5):303-10NGS NGS ApplicationApplicationDe novo sequencingWhole genome resequencingTargeted genomic sequencingExome sequencingTranscriptomesequencingSmall RNA sequencingMethylation analysisChIP-SeqMetagenomics SequencingNGSNGS在血液肿瘤中在血液肿瘤中的应用的应用诊断分型危险度分层MRD监测预后判定指导治疗克隆演变Clinical impact of small
3、 TP53 mutated subclones in chronic lymphocytic leukemiaBlood.2014 Apr 3;123(14):2139-47Relapse risk&Overall survival by pre-HCT NGS-MRDBlood.2015 May 28;125(22):3501-8MFC-MRD&NGS-MRDBlood.2015 May 28;125(22):3501-8Relapse risk by post-HCT NGS-MRDBlood.2015 May 28;125(22):3501-8Clonal evolution in MP
4、N patientsBlood.2014 Apr 3;123(14):2220-8Clonal evolution in MPN patientsBlood.2014 Apr 3;123(14):2220-8Blood.2014 Apr 3;123(14):2220-8血液病基因筛查靶定血液病基因筛查靶定112112个基因个基因ABCB1CALRCXCR4EZH2IDH1LYSTNPM1PTPN11SMC1ATRAF3ABL1CBLCYLDFAM46CIDH2MAFBNRASRAB27ASMC3U2AF1ADAMTS13CCND1DDX3XFANCAIKZF1MAPK1PAX5RB1SRSF2
5、U2AF2AKT1CCND3DIS3FANCCIL7RMLL2PDGFRBRELNSTX11UNC13DALAS2CDKN1ADNM2FANCGITKMPLPHF6RUNX1STXBP2WASARID1ACEBPADNMT3AFAT1JAK1MUM1PIK3CASAMHD1SUZ12WHSC1ASXL1c-MAFECT2LFBXW7JAK2MYD88PRDM1SETBP1TAL1WT1ATMc-MYCEEDFGFR3JAK3MYH11PRF1SF1TELXIAPBCL2CREBBPEGFRFLT3KITNF1PRMT5SF3A1TET2XPO1BCL6CRLF2EP300GATA2KRASNOTCH1PRPF40BSF3B1TNFAIP3ZMYM3BIRC3CSF3REPHA7GATA3SH2B3NOTCH2PTENSH2D1ATP53ZRSR2BRAFCUX1病例分享病例分享