二代测序技术在血液肿瘤中的应用中国专家共识(2018年版)

Next-generationsequencing,NGSNGSNGSNGSNGS1AMLMPNMDS-RSHCL/LPL/WM[1,2,3,4,5,6,7,8]2NCCNAML[1]MDSMPNMDS/MPNALL/CLL/SLLLPL/WMLGLL[2,3,4,5,6,7,8]3FLT3IDH1/2BRAFJAK-STAT[1,4,5]TP53CLL/SLLMYD88CXCR4LPL/WMABL1CMLPhALLTKI[4,7,8]4MRDMRD[9]PCRMRDNGSMRD5[10]1WHONCCNCEBPADDX41RUNX1ETV6GATA2[2,4][11,12]2NPM1c.860_863NOTCH1HDPEST[13]TP53RUNX15bpUTRBCL6[14]1NGS1~3ml3~5ml1107EDTA24h48~105~8NGS2DNADNANGSDNADNAFFPEDNADNADNA[11]3[15][16]PCR4DNA1readsQ2050090%2lowqualityreadsduplicatereadsinsertion/deletion/mismatchadaptorTrimmomaticFastx_toolkitNGSQCToolkit3Humanhg19MAQBWABowtie/Bowtie2SOAP/SOAP2mrFASTStampy4SamtoolsGATKEnsemblRefSeqGENCODEdbSNP1000genomesESPExACCOSMICHGMDClinvarpolyphenSIFT5SNV1NGS[11,16]2cDNAHGVS[17]NationalCenterofBiotechnologyInformationDNAcanonicalsequence[18]3CFDAFDA4OMIMHGMDACMG[19]1NGS[20]NGSCFDASOPLDT[11,18,21,22]2NGSSOP[15]1[1,2,3,4,5,6,7,8]1[1,2,3,4,5,6,7,8]AMLALLMDSMPN/[11,18]cutoffcutoffSangerARMS-PCRPCRcutoffARMS-PCRPCR/[18]NGS''3NGSNGSNGS[11,15]NGS/4[11,18]NGSNGSNGS