摘要
目的研究多基因检测方法对穿刺细胞学不确定的甲状腺结节的诊断价值.方法选取2018年2-9月期间在北京大学肿瘤医院进行细针穿刺活检的甲状腺结节连续病例360例,其中男86例,女274例,年龄13~89岁,平均45.8岁.共检测391个结节,对其中细胞学不确定的141个结节的标本进行高通量多基因检测,包括16个基因突变和26种基因融合.根据甲状腺结节手术适应证对其中75个结节进行手术治疗,将基因检测结果与术后病理进行对照,计算多基因检测方法的诊断效能,通过配对χ^2检验方法比较多基因检测和BRAF V600E单基因检测的诊断正确率.结果多基因检测方法诊断不确定结节的灵敏度为73.2%;特异度为96.8%;阳性预测值为96.8%;阴性预测值为73.2%.多基因检测方法诊断正确率为83.3%,BRAF V600E单基因检测的诊断正确率为73.6%,差异有统计学意义(χ^2=31.588,P<0.01).结论对细胞学不确定的甲状腺结节穿刺标本进行多基因检测是有效的鉴别良恶性的方法,比BRAF V600E单基因检测具有更高的诊断正确率.
Objective To study the diagnostic value of a multi-gene molecular testing in cytologically indeterminate thyroid nodules.Methods From February 2018 to September 2018,patients with thyroid nodules who underwent fine needle aspiration(FNA)at Peking University Cancer Hospital were enrolled.Three hundred and sixty patients were included,consisting of 86 men and 274 women,with a mean age of 45.8 years(between 13 and 89 years old).Among 391 nodules,141 were cytologically inderminate and 75 were resected.FNA samples underwent prospective testing using a next-generation sequencing(NGS)assay,which included 16 genes for point mutations and 26 types of gene fusions.The testing results of indeterminate nodules were compared with surgical outcomes,to determine the diagnostic performance.The results were compared with the BRAF V600E single gene mutation analysis byχ^2 test.Results The multi-gene testing showed a sensitivity of 73.2%,specificity of 96.8%,positive predictive value of 96.8%,and negative predictive value of 73.2%.The diagnostic accuracy of multi-gene testing was significantly higher than the BRAF V600E mutation test(83.3%vs 73.6%,χ^2=31.588,P<0.01).Conclusion Multi-gene testing in FNA samples is an effective method to diagnose cytologically indeterminate thyroid nodules,which has a higher accuracy than BRAF V600E mutation detection.
作者
宋韫韬
徐国辉
朱艳丽
马同辉
于灏
王天笑
于文斌
魏炜
张彬
Song Yuntao;Xu Guohui;Zhu Yanli;Ma Tonghui;Yu Hao;Wang Tianxiao;Yu Wenbin;Wei Wei;Zhang Bin(Department of Head and Neck Surgery,Beijing Cancer Hosptial,Beijing Institute for Cancer Research,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Beijing 100142,China;Department of Pathology,Beijing Cancer Hosptial,Beijing Institute for Cancer Research,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Beijing 100142,China;Beijing Fanshengzi Gene Technology Co.,Ltd,Beijing 102206,China)
出处
《中华耳鼻咽喉头颈外科杂志》
CAS
CSCD
北大核心
2019年第10期764-768,共5页
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
关键词
甲状腺肿瘤
甲状腺结节
细针穿刺活检
分子诊断技术
Thyroid neoplasms
Thyroid nodule
Fine needle aspiration
Molecular diagnositic techniques
