NGS-蔺亚妮二代测序技术在血液肿瘤中的应用【21页】.pptxVIP

二代测序技术在血液肿瘤中的应用

二代测序技术概述二代测序在血液肿瘤中的应用及病例分享12

一代测序—Sanger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—高通量

TrendsGenet.2014Sep;30(9):418-26成本低

灵敏度高

缺点：读长短

二代测序—技术平台Roche454Illumina-SolexaLife-iontorrent

NGS工作流程Mutagenesis.2014Sep;29(5):303-10

NGSApplicationDenovosequencingWholegenomeresequencingTargetedgenomicsequencingExomesequencingTranscriptomesequencingSmallRNAsequencingMethylationanalysisChIP-SeqMetagenomicsSequencing

NGS在血液肿瘤中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

ClinicalimpactofsmallTP53mutatedsubclonesinchroniclymphocyticleukemiaBlood.2014Apr3;123(14):2139-47

RelapseriskOverallsurvivalbypre-HCTNGS-MRDBlood.2015May28;125(22):3501-8

MFC-MRDNGS-MRDBlood.2015May28;125(22):3501-8

Relapseriskbypost-HCTNGS-MRDBlood.2015May28;125(22):3501-8

ClonalevolutioninMPNpatientsBlood.2014Apr3;123(14):2220-8

ClonalevolutioninMPNpatientsBlood.2014Apr3;123(14):2220-8

Blood.2014Apr3;123(14):2220-8

血液病基因筛查靶定112个基因ABCB1

CALR

CXCR4

EZH2

IDH1

LYST

NPM1

PTPN11

SMC1A

TRAF3

ABL1

CBL

CYLD

FAM46C

IDH2

MAFB

NRAS

RAB27A

SMC3

U2AF1

ADAMTS13

CCND1

DDX3X

FANCA

IKZF1

MAPK1

PAX5

RB1

SRSF2

U2AF2

AKT1

CCND3

DIS3

FANCC

IL7R

MLL2

PDGFRB

RELN

STX11

UNC13D

ALAS2

CDKN1A

DNM2

FANCG

ITK

MPL

PHF6

RUNX1

STXBP2

WAS

ARID1A

CEBPA

DNMT3A

FAT1

JAK1

MUM1

PIK3CA

SAMHD1

SUZ12

WHSC1

ASXL1

c-MAF

ECT2L

FBXW7

JAK2

MYD88

PRDM1

SETBP1

TAL1

WT1

ATM

c-MYC

EED

FGFR3

JAK3

MYH11

PRF1

SF1

TEL

XIAP

BCL2

CREBBP

EGFR

FLT3

KIT

NF1

PRMT5

SF3A1

TET2

XPO1

BCL6

CRLF2

EP300

GATA2

KRAS

NOTCH1

PRPF40B

SF3B1

TNFAIP3

ZMYM3

BIRC3

CSF3R

EPHA7

GATA3

SH2B3

NOTCH2

PTEN

SH2D1A

TP53

ZRSR2

BRAF

CUX1

病例分享