The value of multi-gene testing in benign or malign diagnosis of thyroid nodules with indeterminate cytology
10.3760/cma.j.issn.1673-0860.2019.10.011
- VernacularTitle: 多基因检测在细胞学不确定的甲状腺结节良恶性诊断中的价值
- Author:
Yuntao SONG
1
;
Guohui XU
1
;
Yanli ZHU
2
;
Tonghui MA
3
;
Hao YU
1
;
Tianxiao WANG
1
;
Wenbin YU
1
;
Wei WEI
1
;
Bin ZHANG
1
Author Information
1. 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
2. Department of Pathology, Beijing Cancer Hosptial, Beijing Institute for Cancer Research, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Beijing 100142, China
3. Beijing Fanshengzi Gene Technology Co., Ltd, Beijing 102206, China
- Publication Type:Journal Article
- Keywords:
Thyroid neoplasms;
Thyroid nodule;
Fine needle aspiration;
Molecular diagnositic techniques
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2019;54(10):764-768
- CountryChina
- Language:Chinese
-
Abstract:
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 by χ2 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%, χ2=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.
