甲状腺肿瘤组织中BRAF基因突变及临床意义  

Detection of BRAF mutation and its clinical significance in thyroid cancer

作　　者：汪杰[1] 吴高松[1] 马小鹏[1] 刘岩岩[1] 陈华涛[1] 黄伟[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院甲乳外科,武汉430030

出　　处：《中华实验外科杂志》2011年第7期1102-1104,共3页Chinese Journal of Experimental Surgery

基　　金：湖北省自然科学基金资助项目（2008CDB179）;国家卫生部规划视听教材基金资助项目（09-V0-15）

摘　　要：目的探讨甲状腺良恶性肿瘤中BRAF基因点突变及在甲状腺乳头状癌（PTC）中BRAF突变与临床病理学特征之间的关系。方法应用聚合酶链反应（PCR）技术和基因直接测序法检测104例甲状腺良恶性肿瘤组织中BRAF点突变。结果在104例标本中，仅在PTC中检测到BRAF点突变，突变率为58．2％（46／79），其他类型的甲状腺良恶性肿瘤中均未检测到BRAF突变。在PTC中BRAF基因突变与肿瘤高分期、腺体外浸润及淋巴结转移呈正相关（P〈0．05），而与患者的年龄、性别及肿瘤大小无明显相关（P〉0．05）。结论BRAF基因突变是PTC中较常见的遗传学事件，它与肿瘤的分期、腺体外浸润及淋巴结转移具有重要关系。Objective To investigate the BRAF mutation in benign and malignant thyroid tumors and its relationship with clinicopathological features in papillary thyroid cancer （PTC）. Methods Polymerase chain reaction （PCR） and gene sequencing were performed to detect BRAF mutation in 104 cases of benign and malignant thyroid tissues. Results In 104 cases, BRAF mutation was detected in 46 out of 79 PTC cases with a detection rate of 58.2%. BRAF mutation was negative in other kinds of thyroid cancer and benign thyroid diseases. BRAF mutation in PTC was positively correlated with clinical stage, extra-thyroidal extension and lymph nodal metastasis （ P 〈 0.05 ）, but not with age, gender and tumor size （ P 〉 0.05）. Conclusion BRAF mutation was an important and common molecular hallmark of PTC and had a significant correlation with the clinical stage, extra-thyroidal extension and lymph nodal metastasis of PTC.

关 键 词：BRAF基因 突变 甲状腺癌 

分 类 号：R736.1[医药卫生—肿瘤]