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1、www.nature.com/scientificreportsOPENDetectionofknownandnovelALKfusiontranscriptsinlungcancerpatientsusingnext-generationReceived:9June2017sequencingapproachesAccepted:4September2017Published:xxxxxxxxJulieA.Vendrell1,SylvieTaviaux1,BenoîtBéganton2,SylvainGodreuil3,PatriciaAudran4,DavidGrand5,E
2、stelleClermont5,IsabelleSerre1,VanessaSzablewski1,PeterCoopman2,JulienMazières6,ValérieCostes1,Jean-LouisPujol7,PierreBrousset5,8,IsabelleRouquette5&JérômeSolassol1,2Rearrangementsoftheanaplasticlymphomakinase(ALK)geneinnon-smallcelllungcancer(NSCLC)representanovelmoleculartargetinasmallsubse
3、toftumors.AlthoughALKrearrangementsareusuallyassessedbyimmunohistochemistry(IHC)andfluorescenceinsituhybridization(FISH),molecularapproacheshaverecentlyemergedasrelevantalternativesinroutinelaboratories.Here,weevaluatedtheuseoftwodifferentamplicon-basednext-generationsequencing(NGS)methods(Am
4、pliSeqandArcher®FusionPlex®)todetectALKrearrangements,andcomparedthesewithIHCandFISH.Atotalof1128NSCLCspecimenswerescreenedusingconventionalanalyses,andasubsetof37(15ALK-positive,and22ALK-negative)sampleswereselectedforNGSassays.AlthoughAmpliSeqcorrectlydetected25/37(67.6%)samples,1/37(2.7%)a
5、nd11/37(29.7%)specimenswerediscordantanduncertain,respectively,requiringfurthervalidation.Incontrast,Archer®FusionPlex®accuratelyclassifiedallsamplesandallowedthecorrectidentificationofonerareDCTN1-ALKfusion,onenovelCLIP1-ALKfusion,andonenovelGCC2-ALKtranscript.Ofparticularinterest,twooutofth
6、reepatientsharboringthesesingularrearrangementsweretreatedwithandsensitivetocrizotinib.ThesedatashowthatArcher®FusionPlex®mayprovideaneffectiveandaccuratealternativetoFISHtestingforthedetectionofknownandnovelALKrearrangementsinclinicaldiagnosticsettings.Inthepastdecade,theoutcomesofselectedsu
7、bgroupsofpatientswithnon-smallcelllungcancer(NSCLC)haveimprovedconsiderablywiththeemergenceoftargetedtherapiesformanagementofthedisease1.Comprehensivemolecularprofilingoflungadenocarcinomahasrevealedanumberofactionabledriveralterationsthatare
