骨髓增生异常综合征MDS中外周血及骨

Highconcordanceofgenomicandcytogeneticaberrationsbetweenperipheralbloodandbonemarrowinmyelodysplasticsyndrome(MDS)

摘要原文Bonemarrow(BM)geneticabnormalitiesinmyelodysplasticsyndrome(MDS)haveprovidedimportantbiologicalandprognosticinformation;however,frequentBMsamplinginolderpatientshasbeenassociatedwithsignificantmorbidity.Utilizingsingle-nucleotidepolymorphismarray(SNP-A)andtargetedgenesequencing(TGS)of24frequentlymutatedgenesinMDS,weassessedtheconcordanceofgeneticabnormalitiesinBMandperipheralblood(PB)samplesconcurrentlyfromMDSpatients.SNP-AkaryotypeinBMwasabnormalin(54%)andnormalin93(46%)patients,with95%(/)havinganidenticalPBkaryotype.Themediancopynumber(CN)fordeletionswassignificantlylowerinBM(CN:1.4(1–1.9))thaninPB(CN:1.5(1–1.95),P0.).UsingTGS,71%(/)patientshadBMsomaticmutationswith95%(/)havingidenticalmutationsinPB.ThemutantalleleburdenwaslowerinPB(median27%(1–96%))







































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