甲状腺癌患者血浆循环肿瘤DNA含量及BRAF V600E突变联合检测的临床意义  

Clinical significance of combined detection of plasma ctDNA and BRAF V600E mutations in patients with thyroid carcinoma

作　　者：黄铀新[1] 刘家锋[2] 刘少强[3] 任志平[1] 廖伟航 钟旭芳[1] HUANG Youxin;LIU Jiafeng;LIU Shaoqiang;REN Zhiping;LIAO Weihang;ZHONG Xu fang(Department of Nuclear Medicine,Gannan Medical University,Ganzhou 34100,China)

机构地区：[1]赣南医学院第一附属医院核医学科,江西省赣州市341000 [2]赣南医学院第一附属医院耳鼻喉科,江西省赣州市341000 [3]赣南医学院第一附属医院CT/MR,江西省赣州市341000

出　　处：《实用医学杂志》2017年第14期2318-2321,共4页The Journal of Practical Medicine

基　　金：赣南医学院校级课题(编号:YB201405);江西省卫生计生委科技计划(编号:20161105);江西省教育厅科学技术研究项目(编号:150964)

摘　　要：目的检测甲状腺癌患者血浆循环肿瘤DNA(ct DNA)的含量及BRAF V600E的突变率,探讨其在临床诊断中的意义。方法利用血液微量基因组DNA提取试剂盒提取16例甲状腺癌患者和59例良性甲状腺结节患者血浆ct DNA,再用荧光定量PCR检测ct DNA含量,以及用PCR法和测序法检测循环BRAF V600E的突变。然后用联合检测分析法分析其临床意义。结果甲状腺癌组ct DNA含量显著高于良性结节组(P<0.01)。BRAF V600E突变检测发现甲状腺癌组有7例突变,突变率为43.75%;而良性结节组没有突变。平行联合检测可显著提高灵敏性而系列联合检测特异性更高。结论血浆中ct DNA含量和BRAF V600E突变联合检测有助于甲状腺良恶性结节的鉴别诊断。Objective To detect the content of plasma ctDNA and the mutation rate of BRAF V600E in plasma of patients with thyroid carcinoma,and to explore its clinical significance.Methods Plasma ctDNA was extracted from16patients with thyroid carcinoma and59patients with benign thyroid nodules by using the blood genomic DNA Extraction Kit.The ctDNA content was detected by fluorescence quantitative PCR,and the mutation of circulating BRAF V600E was detected by PCR and sequencing.Then the clinical significance was analyzed bycombined detection analysis.Results The content of ctDNA in thyroid cancer group was significantly higher than that in benign nodule group(P<0.01).BRAF V600E mutation detection showed that the mutation rate was43.75%,but benign nodules had no mutation.Parallel combined detection improved the sensitivity and the specificity of the combined detection was higher.Conclusion Combined detection of ctDNA and BRAF V600E in plasma is helpful for differential diagnosis of benign and malignant thyroid nodules.

关 键 词：甲状腺癌 血浆ctDNA BRAFV600E 

分 类 号：R736.1[医药卫生—肿瘤]