Novel HRPT2CDC73 Gene Mutations and Loss of Expression of Parafibromin in Chinese Patients with Clinically Sporadic Parathyroid Carcinomas 英文参考文献.docVIP

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Novel HRPT2CDC73 Gene Mutations and Loss of Expression of Parafibromin in Chinese Patients with Clinically Sporadic Parathyroid Carcinomas 英文参考文献.doc

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Novel HRPT2CDC73 Gene Mutations and Loss of Expression of Parafibromin in Chinese Patients with Clinically Sporadic Parathyroid Carcinomas 英文参考文献

NovelHRPT2/CDC73GeneMutationsandLossof ExpressionofParafibromininChinesePatientswith ClinicallySporadicParathyroidCarcinomas OuWang1.,ChunyanWang1.¤,MinNie1,QuancaiCui2,HengGuan3,YanJiang1,MeiLi1,WeiboXia1, XunwuMeng1,XiaopingXing1* 1Key laboratory of Endocrinology, Ministry of Health; Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese AcademyofMedicalSciences, Beijing,People’sRepublicofChina,2Department ofPathology, PekingUnionMedicalCollegeHospital,PekingUnionMedicalCollege, ChineseAcademyofMedicalSciences,Beijing,People’sRepublicofChina,3DepartmentofSurgery,PekingUnionMedicalCollegeHospital,ChineseAcademyofMedical SciencePekingUnionMedicalCollege,Beijing,People’sRepublicofChina Abstract Objective:Itiswidelyrecognizedthatthediagnosisofparathyroidcarcinoma(PC)isoftendifficultbecauseoftheoverlap of characteristics between malignant and benign parathyroid tumors, especially at an early stage. Based on the identification of tumor suppressor gene HRPT2/CDC73 and its association with hereditary and sporadic PC, screening of genemutationsanddetectionofparafibrominimmunoreactivityhavebeensuggestedasdiagnosticinstrumentsofPCin Whites.ThereislittleinformationaboutHRPT2/CDC73mutationsanditscorrespondingproteinexpressioninpatientswith sporadicPCinChinesepopulation,andthelong-termfollow-updataisscarce. Methods:Paraffin-embeddedtissueswereobtainedfrom13patientswithPC,13patientswithparathyroidadenoma(PA) and7patientswithparathyroidhyperplasia(PH),and6normalparathyroid(NP)tissuesascontrols.Peripheralbloodfrom11 patientswithPCwascollected.PCRproductsusingGenomicDNAextractedfromtumortissuesorbloodastemplatewas sequenced for HRPT2/CDC73 gene. Expression of parafibromin in tumor tissues was evaluated by immunohistochemical analysis. Results: Sixmutations in6of 13patients withPCwereidentified,withthreebeingnovel. Fourofthemweregerm-line mutations.PatientswithmutationsweresusceptibletorecurrenceofthePC.Complete(8/13,61.5%