·实验研究·收稿日期:2022-05-10基金项目:昆明市科技局重点项目(25318000001125)。作者简介:邓菊庆(1983~)女,硕士,主管技师,从事分子病理学工作10余年。通信作者:于璐,E-mail:1772192143@qq.com。桥本氏甲状腺炎伴发病变中BRAFV600E基因突变率的研究*邓菊庆1,杨忠存1,廖丽琼1,宋洁2,于璐1△(昆明市第一人民医院1.病理科2.超声科,云南昆明650011)摘要:目的通过检测BRAFV600E基因在桥本氏甲状腺炎(以下简称桥本)及伴发良、恶性病变中的突变情况,探讨该基因改变在疾病发生中的作用及意义。方法选取昆明市第一人民医院诊断为桥本及合并病变78例,进行BRAFV600E基因检测及资料收集,对结果进行分析及统计。结果在21例桥本组,57例乳头状癌组(伴桥本及不伴桥本)BRAFV600E突变阳性病例分别为0、23例,桥本组与乳头状癌组比较,差异具有统计学意义(P<0.05)。结论BRAFV600E基因突变的分子标记,可以作为乳头状癌早期诊断的参考指标之一,协助对桥本氏甲状腺炎恶性不典型病变的诊断。关键词:BRAF原癌基因V600E位点;桥本氏甲状腺炎;甲状腺乳头状癌中图分类号:R736.1文献标志码:A文章编号:1006-4141(2023)01-0014-03StudyonBRAFV600EgenemutationrateinHashimoto'sthyroiditisandassociatedlesionsDENGJuqing1,YANGZhongcun1,LIAOLiqiong1,SONGJie2,YULu1(1.DepartmentofPathology;2.DepartmentofUltrasonography;TheFirstPeople'sHospitalofKunming,KunmingYunnan650011,China)Abstract:ObjectiveBydetectingthemutationofBRAFV600EgeneinHashimoto'sthyroiditis(hereafterreferredtoasHashimotoHT)andassociatedbenignandmalignantlesions,toexploretheroleandsignificanceofthegenechangeintheoccurrenceofthedisease.Methods78casesdiagnosedHTconcomitantlesionsinTheFirstPeople'sHospitalofKunmingwerecollectedandperformedBRAFV600Egenedetectionanddatacollection,andtheresultsanalysisandstatistic.ResultsIn21casesofHT,BRAFV600Emutationpositivecaseswere0and23in57casesofpapillarycarcinoma(withandwithoutHT),therewasstatisticalSignificanceinthedifferenceofthecomparisonofHTgroupandpapillarycarcinomagroup.ConclusionsThemolecularmarkerofBRAFV600Egenemutation,whichcanbeusedasoneofthereferenceindicatorsfortheearlydiagnosisofpapillarycarcinoma,assistinthediagnosisofmalig...