甲状腺癌中BRAF基因突变和RET融合基因的分子病理检测分析
| 作者: |
1吴永芳,
1许春伟,
1宋业颖,
1班怡,
1张博,
1李晓兵
1 军事医学科学院附属医院病理科，北京 100071 |
| 通讯: |
许春伟
Email: xuchunweibbb@163.com 张博 Email: zenwo@qq.com |
| DOI: | 10.3978/j.issn.2095-6959.2015.07.030 |
摘要
目的：探讨甲状腺癌中BRAF基因突变和RET融合基因各亚型情况。方法：应用Taqman-ARMS方法检测106例甲状腺癌中BRAF基因突变和RET融合基因情况。结果：甲状腺癌中BRAF基因总突变率为66.98%(71/106)，均为V600E突变，BRAF基因突变在年龄(<49岁)(47/61，77.05%)、被膜无浸润或转移(40/56，71.43%)和临床分期Ⅰ或Ⅱ(37/52，71.15%)中较高(P<0.05)；RET融合基因总阳性率为4.72%(5/106)，RET融合基因与性别、年龄、肿瘤大小、被膜是否浸润及转移和临床分期无关(P>0.05)。结论：甲状腺癌患者中BRAF基因存在较高的突变率，低龄、被膜未浸润或转移及Ⅰ或Ⅱ期甲状腺癌多见，RET融合基因中融合伙伴CCDC6-或NCOA4-较为常见。
关键词：
Taqman-ARMS方法
甲状腺癌
BRAF基因
RET融合基因
The molecular pathology examination analysis of BRAF gene mutation and RET fusion gene in thyroid cancer
CorrespondingAuthor: XU Chunwei Email: xuchunweibbb@163.com
DOI: 10.3978/j.issn.2095-6959.2015.07.030
Abstract
Objective: To investigate the mutations of BRAF gene and RET fusion gene in thyroid cancer. Methods: Taqman-ARMS was used to test in 106 cases of thyroid cancer with BRAF gene mutation and RET fusion gene. Results: The total mutation rate of BRAF gene was 66.98% (71/106) in thyroid cancer, and they were all V600E mutation. BRAF gene mutation with age (<49) (47/61, 77.05%), capsule invasion or metastasis (40/56, 71.43%) and clinical stage (37/52, 71.15%) (P<0.05) were higher; the total positive rate of RET fusion gene was 4.72% (5/106) in thyroid cancer. RET fusion gene had no nothing to do with sex, age, tumor size, capsule invasion or metastasis, and clinical stage Ⅰ or Ⅱ (P>0.05). Conclusion: BRAF gene mutation has a higher mutation rate in thyroid cancer, especially in young, capsule invasion or metastasis, and Ⅰ or Ⅱ stage. Fusion partner CCDC6- or NCOA4- is common RET fusion gene in thyroid cancer.