Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules
BackgroundThough fine-needle aspiration (FNA) improved the diagnostic methods of thyroid nodules, there are still parts of nodules that cannot be determined according to cytology. In the Bethesda system for reporting thyroid cytopathology, there are two uncertain cytology results. Thanks to the deve...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-07-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2021.677892/full |
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| author | Li-Cheng Tan Li-Cheng Tan Wan-Lin Liu Wan-Lin Liu Xiao-Li Zhu Xiao-Li Zhu Peng-Cheng Yu Peng-Cheng Yu Xiao Shi Xiao Shi Pei-Zhen Han Pei-Zhen Han Ling Zhang Ling Zhang Liang-Yu Lin Arseny Semenov Yu Wang Yu Wang Qing-Hai Ji Qing-Hai Ji Dong-Mei Ji Dong-Mei Ji Yu-Long Wang Yu-Long Wang Ning Qu Ning Qu |
| author_facet | Li-Cheng Tan Li-Cheng Tan Wan-Lin Liu Wan-Lin Liu Xiao-Li Zhu Xiao-Li Zhu Peng-Cheng Yu Peng-Cheng Yu Xiao Shi Xiao Shi Pei-Zhen Han Pei-Zhen Han Ling Zhang Ling Zhang Liang-Yu Lin Arseny Semenov Yu Wang Yu Wang Qing-Hai Ji Qing-Hai Ji Dong-Mei Ji Dong-Mei Ji Yu-Long Wang Yu-Long Wang Ning Qu Ning Qu |
| author_sort | Li-Cheng Tan |
| collection | DOAJ |
| description | BackgroundThough fine-needle aspiration (FNA) improved the diagnostic methods of thyroid nodules, there are still parts of nodules that cannot be determined according to cytology. In the Bethesda system for reporting thyroid cytopathology, there are two uncertain cytology results. Thanks to the development of next-generation sequencing technology, it is possible to gain the genetic background of pathological tissue efficiently. Therefore, a combination of the cytology and genetic background may enhance the accuracy of diagnosis in thyroid nodules.MethodsDNA from 73 FNA samples of thyroid nodules belonging to different cytology types was extracted and exome sequencing was performed by the ThyroLead panel. Test for BRAF mutation was also performed by ARMS-qPCR. Information including age, sex, preoperative cytology, BRAF mutation status tested by ARMS-qPCR, and surgical pathology was collected in electronic medical record system.ResultsA total of 71 single nucleotide variants, three fusion gene, and two microsatellite instability-high status were detected in 73 FNA samples. BRAF V600E mutation is the most common mutation in these malignant thyroid nodules. After combining the cytology and genetic background detected by next-generation sequencing, the diagnosis sensitivity was increased from 0.582 (95% CI: 0.441–0.711) to 0.855 (95% CI: 0.728–0.930) (P < 0.001) in our group, while the specificity, 1,000 (95% CI: 0.732–1.000) compared to 0.857 (95% CI: 0.562–0.975) (P = 0.25), did not get affected.ConclusionsNext-generation sequencing in thyroid nodules can enhance the preoperative diagnosis sensitivity by fine-needle aspiration alone. It can also provide genetic background for direction of medication. It is possible for clinicians to combine cytology with genetic alterations for a more precise diagnosis strategy of thyroid nodules. |
| first_indexed | 2024-12-18T01:05:04Z |
| format | Article |
| id | doaj.art-4592dfedde8f43f298ea77720ca8b1ff |
| institution | Directory Open Access Journal |
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| language | English |
| last_indexed | 2024-12-18T01:05:04Z |
| publishDate | 2021-07-01 |
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| series | Frontiers in Oncology |
| spelling | doaj.art-4592dfedde8f43f298ea77720ca8b1ff2022-12-21T21:26:16ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2021-07-011110.3389/fonc.2021.677892677892Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid NodulesLi-Cheng Tan0Li-Cheng Tan1Wan-Lin Liu2Wan-Lin Liu3Xiao-Li Zhu4Xiao-Li Zhu5Peng-Cheng Yu6Peng-Cheng Yu7Xiao Shi8Xiao Shi9Pei-Zhen Han10Pei-Zhen Han11Ling Zhang12Ling Zhang13Liang-Yu Lin14Arseny Semenov15Yu Wang16Yu Wang17Qing-Hai Ji18Qing-Hai Ji19Dong-Mei Ji20Dong-Mei Ji21Yu-Long Wang22Yu-Long Wang23Ning Qu24Ning Qu25Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Pathology, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Pathology, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Technology, Zhejiang Topgen Clinical Laboratory Co, Ltd., Huzhou, ChinaEndocrine Surgery Department, N.I. Pirogov Clinic of High Medical Technologies, Saint-Petersburg State University, Saint-Petersburg, RussiaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Medical Oncology, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaDepartment of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, ChinaDepartment of Oncology, Shanghai Medical College, Fudan University, Shanghai, ChinaBackgroundThough fine-needle aspiration (FNA) improved the diagnostic methods of thyroid nodules, there are still parts of nodules that cannot be determined according to cytology. In the Bethesda system for reporting thyroid cytopathology, there are two uncertain cytology results. Thanks to the development of next-generation sequencing technology, it is possible to gain the genetic background of pathological tissue efficiently. Therefore, a combination of the cytology and genetic background may enhance the accuracy of diagnosis in thyroid nodules.MethodsDNA from 73 FNA samples of thyroid nodules belonging to different cytology types was extracted and exome sequencing was performed by the ThyroLead panel. Test for BRAF mutation was also performed by ARMS-qPCR. Information including age, sex, preoperative cytology, BRAF mutation status tested by ARMS-qPCR, and surgical pathology was collected in electronic medical record system.ResultsA total of 71 single nucleotide variants, three fusion gene, and two microsatellite instability-high status were detected in 73 FNA samples. BRAF V600E mutation is the most common mutation in these malignant thyroid nodules. After combining the cytology and genetic background detected by next-generation sequencing, the diagnosis sensitivity was increased from 0.582 (95% CI: 0.441–0.711) to 0.855 (95% CI: 0.728–0.930) (P < 0.001) in our group, while the specificity, 1,000 (95% CI: 0.732–1.000) compared to 0.857 (95% CI: 0.562–0.975) (P = 0.25), did not get affected.ConclusionsNext-generation sequencing in thyroid nodules can enhance the preoperative diagnosis sensitivity by fine-needle aspiration alone. It can also provide genetic background for direction of medication. It is possible for clinicians to combine cytology with genetic alterations for a more precise diagnosis strategy of thyroid nodules.https://www.frontiersin.org/articles/10.3389/fonc.2021.677892/fullthyroid nodulesnext-generation sequencingfine-needle aspirationdiagnosisBRAF mutation |
| spellingShingle | Li-Cheng Tan Li-Cheng Tan Wan-Lin Liu Wan-Lin Liu Xiao-Li Zhu Xiao-Li Zhu Peng-Cheng Yu Peng-Cheng Yu Xiao Shi Xiao Shi Pei-Zhen Han Pei-Zhen Han Ling Zhang Ling Zhang Liang-Yu Lin Arseny Semenov Yu Wang Yu Wang Qing-Hai Ji Qing-Hai Ji Dong-Mei Ji Dong-Mei Ji Yu-Long Wang Yu-Long Wang Ning Qu Ning Qu Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules Frontiers in Oncology thyroid nodules next-generation sequencing fine-needle aspiration diagnosis BRAF mutation |
| title | Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules |
| title_full | Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules |
| title_fullStr | Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules |
| title_full_unstemmed | Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules |
| title_short | Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules |
| title_sort | next generation sequencing enhances the diagnosis efficiency in thyroid nodules |
| topic | thyroid nodules next-generation sequencing fine-needle aspiration diagnosis BRAF mutation |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2021.677892/full |
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