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

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

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

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 HsihChih Yuan Wang, Wei Shiung Yang, Pei Lung Chen, Shyang Rong Shih^*

^*Corresponding author for this work

National Taiwan University

Research output: Contribution to journal › Journal Article › peer-review

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.

Original language	English
Pages (from-to)	1907-1927
Number of pages	21
Journal	Head and Neck
Volume	47
Issue number	7
Early online date	12 02 2025
DOIs	https://doi.org/10.1002/hed.28100
State	Published - 07 2025
Externally published	Yes

Bibliographical note

Keywords

fusion genes
metastasis
mutations
oncogene
thyroid cancer
Humans
Middle Aged
Male
Thyroid Neoplasms/genetics
Neoplasm Metastasis/genetics
Female
Adult
Aged
High-Throughput Nucleotide Sequencing
Mutation

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/hed.28100

Cite this

Lin, Y. B., Hu, H. W., Chung, A. K., Lu, J. Y., Wu, W. C., Chiu, I. H., Chu, I., Lin, C. C., Lee, J. H., Nien, F. J., Chen, K. Y., Wu, M. H., Chen, C. N., Wang, C. W., Kuo, T. C., Lin, C. H., Cheng, M. F., Chiu, W. Y., Kuo, S. W., ... Shih, S. R. (2025). Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report. Head and Neck, 47(7), 1907-1927. https://doi.org/10.1002/hed.28100

@article{346e177ce5ab4081ae4537cb7c33e691,

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

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, Humans, Middle Aged, Male, Thyroid Neoplasms/genetics, Neoplasm Metastasis/genetics, Female, Adult, Aged, High-Throughput Nucleotide Sequencing, Mutation",

author = "Lin, \{Yen Bo\} and Hu, \{Hsiang Wei\} and Chung, \{An Ko\} and Lu, \{Jin Ying\} and Wu, \{Wan Chen\} and Chiu, \{I. Hsuan\} and I. Chu and Lin, \{Chia Chi\} and Lee, \{Jih Hsiang\} and Nien, \{Feng Jung\} and Chen, \{Kuen Yuan\} and Wu, \{Ming Hsun\} and Chen, \{Chun Nan\} and Wang, \{Chun Wei\} and Kuo, \{Ting Chun\} and Lin, \{Chia Hung\} and Cheng, \{Mei Fang\} and Chiu, \{Wei Yih\} and Kuo, \{Shuenn Wen\} and Hsih, \{Wen Hui\} and Wang, \{Chih Yuan\} and Yang, \{Wei Shiung\} and Chen, \{Pei Lung\} and Shih, \{Shyang Rong\}",

note = "{\textcopyright} 2025 Wiley Periodicals LLC.",

year = "2025",

month = jul,

doi = "10.1002/hed.28100",

language = "英语",

volume = "47",

pages = "1907--1927",

journal = "Head and Neck",

issn = "1043-3074",

publisher = "John Wiley \& Sons Inc.",

number = "7",

}

Lin, YB, Hu, HW, Chung, AK, Lu, JY, Wu, WC, Chiu, IH, Chu, I, Lin, CC, Lee, JH, Nien, FJ, Chen, KY, Wu, MH, Chen, CN, Wang, CW, Kuo, TC, Lin, CH, Cheng, MF, Chiu, WY, Kuo, SW, Hsih, WH, Wang, CY, Yang, WS, Chen, PL & Shih, SR 2025, 'Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report', Head and Neck, vol. 47, no. 7, pp. 1907-1927. https://doi.org/10.1002/hed.28100

TY - JOUR

T1 - Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients

T2 - A Clinical Perspective and Preliminary Report

AU - Lin, Yen Bo

AU - Hu, Hsiang Wei

AU - Chung, An Ko

AU - Lu, Jin Ying

AU - Wu, Wan Chen

AU - Chiu, I. Hsuan

AU - Chu, I.

AU - Lin, Chia Chi

AU - Lee, Jih Hsiang

AU - Nien, Feng Jung

AU - Chen, Kuen Yuan

AU - Wu, Ming Hsun

AU - Chen, Chun Nan

AU - Wang, Chun Wei

AU - Kuo, Ting Chun

AU - Lin, Chia Hung

AU - Cheng, Mei Fang

AU - Chiu, Wei Yih

AU - Kuo, Shuenn Wen

AU - Hsih, Wen Hui

AU - Wang, Chih Yuan

AU - Yang, Wei Shiung

AU - Chen, Pei Lung

AU - Shih, Shyang Rong

PY - 2025/7

Y1 - 2025/7

N2 - 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.

AB - 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.

KW - fusion genes

KW - metastasis

KW - mutations

KW - oncogene

KW - thyroid cancer

KW - Humans

KW - Middle Aged

KW - Male

KW - Thyroid Neoplasms/genetics

KW - Neoplasm Metastasis/genetics

KW - Female

KW - Adult

KW - Aged

KW - High-Throughput Nucleotide Sequencing

KW - Mutation

UR - https://www.scopus.com/pages/publications/85218820446

U2 - 10.1002/hed.28100

DO - 10.1002/hed.28100

M3 - 文章

C2 - 39936351

AN - SCOPUS:85218820446

SN - 1043-3074

VL - 47

SP - 1907

EP - 1927

JO - Head and Neck

JF - Head and Neck

IS - 7

ER -

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

Abstract

Bibliographical note

Keywords

UN SDGs

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