Head & neck · 2025
Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report.
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Lin Yen-Bo, Hu Hsiang-Wei, Chung An-Ko, Lu Jin-Ying, Wu Wan-Chen, Chiu I-Hsuan, Chu I, Lin Chia-Chi, Lee Jih-Hsiang, Nien Feng-Jung, Chen Kuen-Yuan, Wu Ming-Hsun, Chen Chun-Nan, Wang Chun-Wei, Kuo Ting-Chun, Lin Chia-Hung, Cheng Mei-Fang, Chiu Wei-Yih, Kuo Shuenn-Wen, Hsih Wen-Hui, Wang Chih-Yuan, Yang Wei-Shiung, Chen Pei-Lung, Shih Shyang-Rong
Аннотация
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.
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.