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1、NIHPublicAccessAuthorManuscriptLungCancer.Authormanuscript;availableinPMC2012February19.NIH-PAAuthorManuscriptPublishedinfinaleditedformas:NIH-PAAuthorManuscriptNIH-PAAuthorManuscriptLungCancer.2011July;73(1):96±102.doi:10.1016/j.lungcan.2010.10.014.D
2、etectionofEGFRmutationsinplasmaDNAfromlungcancerpatientsbymassspectrometrygenotypingispredictiveoftumorEGFRstatusandresponsetoEGFRinhibitorsMarieBrevet1,MelissaL.Johnson3,ChristopherG.Azzoli3,andMarcLadanyi1,21DepartmentofPathology,MemorialSloan-Kette
3、ringCancerCenter,NewYork,NewYork2HumanOncologyandPathogenesisProgram,MemorialSloan-KetteringCancerCenter,NewYork,NewYork3DepartmentofMedicine,MemorialSloan-KetteringCancerCenter,NewYork,NewYorkAbstractAims—EGFRmutationsnowguidetheclinicaluseofEGFR-tar
4、getedtherapyinlungcancer.However,standardEGFRmutationanalysisrequiresaminimumamountoftumortissue,whichmaynotbeavailableincertainsituations.Inthisstudy,wecombinedamassspectrometrygenotypingassay(Sequenom)withamutant-enrichedPCR(ME-PCR)todetectEGFRmutat
5、ionsinfreeplasmaDNAfrompatientswithlungcancer.Method—DNAswereextractedfrom31plasmasamplesfrom31patientsandanalyzedbybothmethodsforEGFRexon19deletionandEGFRL858Rmutation.ResultsinplasmaDNAsampleswerecomparedwithEGFRmutationstatusobtainedintumorDNA(18/3
6、1EGFRmutant).TherelationshipofEGFRmutationstatusintumorand/orplasmasamplestooverallsurvivalwasassessed.Results—TheEGFRmutationstatusinplasmaDNAwasidenticaltotheprimarytumorin61%ofpatients(19/31).Bymassspectrometrygenotyping,theplasmasamplescontainedmu
7、tantDNAcorrespondingto5/14EGFRexon19deletionsand3/4EGFRL858Rmutationspreviouslydiagnosedinthematchedtumors.TwosampleswerepositiveinplasmaDNAbutnegativeinprimarytumortissue.ResultsweresimilarforME-PCR.Forpatientstreatedwitherlotinib,overallsurvivalwasc
8、orrelatedwiththepresenceofEGFRmutationinplasmaand/ortumortissue(p=0.002),withthetwopatientspositiveonlyinplasmaDNAshowingresponsesandfavorableoutcomes.Conclusion—ThedetectionofEGFRmutationsinplasmaDNAsamplesbymassspectrometrygenotypingandME-PC
