Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis 英文参考文献.docVIP

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Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis 英文参考文献.doc

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Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis 英文参考文献

SingleNucleotidePolymorphismArrayLesions,TET2, DNMT3A,ASXL1andCBLMutationsArePresentin SystemicMastocytosis FabiolaTraina1,2,ValeriaVisconte1,AnnaM.Jankowska1,HidekiMakishima1,ChristineL.O’Keefe1, PaulElson3,YingchunHan4,FredH.Hsieh4,MikkaelA.Sekeres1,5,RaghuveerSinghMali6, MattKalaycio5,AlanE.Lichtin5,AnjaliS.Advani5,HienK.Duong5,EdwardCopelan5,ReubenKapur6, SaraT.OlallaSaad2,JaroslawP.Maciejewski1,5,RamonV.Tiu1,5 * 1DepartmentofTranslationalHematologyandOncologyResearch,TaussigCancerInstitute,ClevelandClinic,Cleveland,Ohio,UnitedStatesofAmerica,2Hematology andHemotherapyCenter,INCTdoSangue,UniversityofCampinas,Campinas,Sa?oPaulo,Brazil,3DepartmentofQuantitativeHealthSciences,ClevelandClinic,Cleveland, Ohio,UnitedStatesofAmerica,4DepartmentofPathobiology,LernerResearchInstituteandAllergyandImmunology,RespiratoryInstitute,ClevelandClinic,Cleveland, Ohio,UnitedStatesofAmerica,5DepartmentofHematologicOncologyandBloodDisorders,TaussigCancerInstitute,ClevelandClinic,Cleveland,Ohio,UnitedStatesof America, 6Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University of School of Medicine, Indianapolis, Indiana, United States of America Abstract Wehypothesizedthatanalysisofsinglenucleotidepolymorphismarrays(SNP-A)andnewmoleculardefectsmayprovide newinsightinthepathogenesisofsystemicmastocytosis(SM).SNP-Akaryotypingwasappliedtoidentifyrecurrentareasof loss of heterozygosity and bidirectional sequencing was performed to evaluate the mutational status of TET2, DNMT3A, ASXL1,EZH2,IDH1/IDH2andtheCBLgenefamily.Overallsurvival(OS)wasanalyzedusingtheKaplan-Meiermethod.We studiedatotalof26patientswithSM.In67%ofSMpatients,SNP-Akaryotypingshowednewchromosomalabnormalities including uniparentaldisomy of 4q and2p spanning TET2/KIT and DNMT3A. Mutations in TET2,DNMT3A, ASXL1 andCBL werefoundin23%,12%,12%,and4%ofSMpatients,respectively.NomutationswereobservedinEZH2andIDH1/IDH2. SignificantdifferencesinOSwereobservedforSMmutatedpatientsgroupedbasedonthepre