Lin, Yen-BoYen-BoLinHu, Hsiang-WeiHsiang-WeiHuChung, An-KoAn-KoChungJIN-YING LUChiu, I-HsuanI-HsuanChiuWAN-CHEN WUChu, IIChuKUEN-YUAN CHENCHIA-CHI LINJIH-HSIANG LEEFENG-JUNG NIENCHUN-NAN CHENHsih, Wen-HuiWen-HuiHsihCHUN-WEI WANGTING-CHUN KUOCHIA-HUNG LINWEI-YIH CHIUMEI-FANG CHENGSHUENN-WEN KUOMING-HSUN WUWEI-SHIUNG YANGCHIH-YUAN WANGPEI-LUNG CHENSHYANG-RONG SHIH2025-03-132025-03-132025-02-12https://scholars.lib.ntu.edu.tw/handle/123456789/725675Background: 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.enfusion genesmetastasismutationsoncogenethyroid cancer[SDGs]SDG3journal article10.1002/hed.28100399363512-s2.0-85218820446