甲状腺肿瘤组织中BrafV600E基因突变的检测  

Detection of Braf V600E gene mutation in thyroid neoplasms

作　　者：高颖[1] 沈兵[1] 张建英[1] 石峰[1] 昌红[1] 慕小京[1] 

机构地区：[1]首都医科大学附属北京世纪坛医院病理科,北京100038

出　　处：《诊断病理学杂志》2015年第3期162-165,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨甲状腺肿瘤石蜡包埋组织中Braf V600E基因突变状态及其与年龄、性别、发病部位、病理组织学分型的关系。方法采用实时荧光PCR技术检测144例甲状腺石蜡组织中Braf V600E基因突变。结果 122例甲状腺癌中发现Braf V600E基因突变77例,突变率为63.1%。Braf V600E基因突变与年龄、性别、肿瘤良恶性、甲状腺微小乳头状癌以及肿瘤大小密切相关(P<0.01),与肿瘤的被膜侵犯及广泛转移有关(P<0.05)。22例良性甲状腺病变组织中Braf V600E基因均未检测到突变。结论 Braf V600E基因可以作为甲状腺良、恶性肿瘤鉴别诊断中的一个重要生物标记物,其在甲状腺乳头状癌中的突变率与患者年龄、性别、肿瘤性质及肿瘤大小有关。Objective To investigate the relationship between Braf V600 E mutation status in paraffin embedded tissues of thyroid tumor and age,gender,location,and histological type. Methods Braf V600 E gene mutation was detected in144 cases of thyroid paraffin embedded tissues by real-time fluorescent PCR. Results In 122 cases of thyroid cancer,the Braf V600 E gene mutation was found in 77 cases,and the mutation rate was 63. 11%. Correlation of Braf V600 E gene mutation with age,gender,tumor histological type,tumor size（ P 0. 01） and tumor capsular invasion（ P 0. 05） was found with statistical significance. Braf V600 E gene multation in 22 cases of benign thyroid lesions was not detected.Conclusion According to our experimental results,in thyroid papillary tumor,Braf V600 E gene mutation could be an important biomarker to distinguish the benign from malignant change. As the same time,Braf V600 E gene mutation is related to the tumor size,the patient age,patient gender,papillary thyroid microcarcinoma,and tumor capsular invasion.

关 键 词：甲状腺癌 BRAF V600E 基因突变检测 

分 类 号：R736.1[医药卫生—肿瘤]