{"title":"个体患者甲状腺癌原发部位与远处转移的基因组差异：临床观点和初步报告。","authors":"Yen-Bo Lin, Hsiang-Wei Hu, An-Ko Chung, Jin-Ying Lu, Wan-Chen Wu, I-Hsuan Chiu, I Chu, Chia-Chi Lin, Jih-Hsiang Lee, Feng-Jung Nien, Kuen-Yuan Chen, Ming-Hsun Wu, Chun-Nan Chen, Chun-Wei Wang, Ting-Chun Kuo, Chia-Hung Lin, Mei-Fang Cheng, Wei-Yih Chiu, Shuenn-Wen Kuo, Wen-Hui Hsih, Chih-Yuan Wang, Wei-Shiung Yang, Pei-Lung Chen, Shyang-Rong Shih","doi":"10.1002/hed.28100","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>Distant metastasis is a leading cause of thyroid cancer (TC)-related deaths. Genetic profiling is typically limited to one sample per patient due to cost and sampling-risk concerns. Differences between samples from thyroid and distant metastasis within individual patients are unclear.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>Patients with TC and distant metastasis were recruited for genetic analysis.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Using a TC-specific NGS panel, 66 specimens from 29 patients were analyzed, identifying 16 mutations and 4 fusions, including two novel fusions (<i>FGFR2–SHTN1</i> and <i>RFTN1–BRAF</i>). Genetic alterations differed between primary and metastatic sites in nine patients (31%), predominantly in additional oncogenic alterations (89%). More genetic alterations were found at the primary site in three patients and metastatic sites in four. Distinct mutations were found in two patients. A longer time interval between specimen acquisitions was significantly associated with genetic discrepancies (<i>p</i> = 0.032).</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>Patterns of genetic discrepancies between primary and metastatic TC vary, offering valuable insights for clinical practice.</p>\n </section>\n </div>","PeriodicalId":55072,"journal":{"name":"Head and Neck-Journal for the Sciences and Specialties of the Head and Neck","volume":"47 7","pages":"1907-1927"},"PeriodicalIF":2.2000,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report\",\"authors\":\"Yen-Bo Lin, Hsiang-Wei Hu, An-Ko Chung, Jin-Ying Lu, Wan-Chen Wu, I-Hsuan Chiu, I Chu, Chia-Chi Lin, Jih-Hsiang Lee, Feng-Jung Nien, Kuen-Yuan Chen, Ming-Hsun Wu, Chun-Nan Chen, Chun-Wei Wang, Ting-Chun Kuo, Chia-Hung Lin, Mei-Fang Cheng, Wei-Yih Chiu, Shuenn-Wen Kuo, Wen-Hui Hsih, Chih-Yuan Wang, Wei-Shiung Yang, Pei-Lung Chen, Shyang-Rong Shih\",\"doi\":\"10.1002/hed.28100\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>Distant metastasis is a leading cause of thyroid cancer (TC)-related deaths. Genetic profiling is typically limited to one sample per patient due to cost and sampling-risk concerns. Differences between samples from thyroid and distant metastasis within individual patients are unclear.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>Patients with TC and distant metastasis were recruited for genetic analysis.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>Using a TC-specific NGS panel, 66 specimens from 29 patients were analyzed, identifying 16 mutations and 4 fusions, including two novel fusions (<i>FGFR2–SHTN1</i> and <i>RFTN1–BRAF</i>). Genetic alterations differed between primary and metastatic sites in nine patients (31%), predominantly in additional oncogenic alterations (89%). More genetic alterations were found at the primary site in three patients and metastatic sites in four. Distinct mutations were found in two patients. A longer time interval between specimen acquisitions was significantly associated with genetic discrepancies (<i>p</i> = 0.032).</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>Patterns of genetic discrepancies between primary and metastatic TC vary, offering valuable insights for clinical practice.</p>\\n </section>\\n </div>\",\"PeriodicalId\":55072,\"journal\":{\"name\":\"Head and Neck-Journal for the Sciences and Specialties of the Head and Neck\",\"volume\":\"47 7\",\"pages\":\"1907-1927\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2025-02-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Head and Neck-Journal for the Sciences and Specialties of the Head and Neck\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/hed.28100\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OTORHINOLARYNGOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Head and Neck-Journal for the Sciences and Specialties of the Head and Neck","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/hed.28100","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report
Background
Distant metastasis is a leading cause of thyroid cancer (TC)-related deaths. Genetic profiling is typically limited to one sample per patient due to cost and sampling-risk concerns. Differences between samples from thyroid and distant metastasis within individual patients are unclear.
Methods
Patients with TC and distant metastasis were recruited for genetic analysis.
Results
Using a TC-specific NGS panel, 66 specimens from 29 patients were analyzed, identifying 16 mutations and 4 fusions, including two novel fusions (FGFR2–SHTN1 and RFTN1–BRAF). Genetic alterations differed between primary and metastatic sites in nine patients (31%), predominantly in additional oncogenic alterations (89%). More genetic alterations were found at the primary site in three patients and metastatic sites in four. Distinct mutations were found in two patients. A longer time interval between specimen acquisitions was significantly associated with genetic discrepancies (p = 0.032).
Conclusion
Patterns of genetic discrepancies between primary and metastatic TC vary, offering valuable insights for clinical practice.
期刊介绍：
Head & Neck is an international multidisciplinary publication of original contributions concerning the diagnosis and management of diseases of the head and neck. This area involves the overlapping interests and expertise of several surgical and medical specialties, including general surgery, neurosurgery, otolaryngology, plastic surgery, oral surgery, dermatology, ophthalmology, pathology, radiotherapy, medical oncology, and the corresponding basic sciences.
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