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. 2025 Jul;47(7):1907-1927.
doi: 10.1002/hed.28100. Epub 2025 Feb 12.

Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report

Yen-Bo Lin  1 , Hsiang-Wei Hu  2 , An-Ko Chung  3 , Jin-Ying Lu  4 , Wan-Chen Wu  4 , I-Hsuan Chiu  5 , I Chu  6 , Chia-Chi Lin  7 , Jih-Hsiang Lee  7   8 , Feng-Jung Nien  9 , Kuen-Yuan Chen  10 , Ming-Hsun Wu  10 , Chun-Nan Chen  11 , Chun-Wei Wang  12 , Ting-Chun Kuo  10 , Chia-Hung Lin  4 , Mei-Fang Cheng  13 , Wei-Yih Chiu  4 , Shuenn-Wen Kuo  14 , Wen-Hui Hsih  15 , Chih-Yuan Wang  4   6 , Wei-Shiung Yang  6   16 , Pei-Lung Chen  3   4   5 , Shyang-Rong Shih  4   6
Affiliations

Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report

Yen-Bo Lin et al. Head Neck. 2025 Jul.

Abstract

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.

Keywords: fusion genes; metastasis; mutations; oncogene; thyroid cancer.

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