Related Experiment Video
Updated: May 28, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A
Yen-Bo Lin1, Hsiang-Wei Hu2, An-Ko Chung3
1Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Bei-Hu Branch, Taipei, Taiwan.
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.
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