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 unc...

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Published inHead & neck Vol. 47; no. 7; pp. 1907 - 1927
Main Authors 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
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.07.2025
Wiley Subscription Services, Inc
Subjects
Adult
Aged
Female
Fibroblast growth factor receptor 2
fusion genes
Genetic analysis
High-Throughput Nucleotide Sequencing
Humans
Male
Metastases
Metastasis
Middle Aged
Mutation
mutations
Neoplasm Metastasis - genetics
oncogene
Thyroid cancer
Thyroid gland
Thyroid Neoplasms - genetics
Thyroid Neoplasms - pathology
fusion genes
thyroid cancer
mutations
oncogene
metastasis
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Abstract 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.
AbstractList 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.
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.
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. Patients with TC and distant metastasis were recruited for genetic analysis. 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). Patterns of genetic discrepancies between primary and metastatic TC vary, offering valuable insights for clinical practice.
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.BACKGROUNDDistant 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.Patients with TC and distant metastasis were recruited for genetic analysis.METHODSPatients with TC and distant metastasis were recruited for genetic analysis.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).RESULTSUsing 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).Patterns of genetic discrepancies between primary and metastatic TC vary, offering valuable insights for clinical practice.CONCLUSIONPatterns of genetic discrepancies between primary and metastatic TC vary, offering valuable insights for clinical practice.
Author Lin, Yen‐Bo
Lu, Jin‐Ying
Chu, I
Chen, Kuen‐Yuan
Yang, Wei‐Shiung
Hsih, Wen‐Hui
Chen, Chun‐Nan
Chen, Pei‐Lung
Wu, Ming‐Hsun
Lin, Chia‐Hung
Chung, An‐Ko
Kuo, Shuenn‐Wen
Lee, Jih‐Hsiang
Wang, Chun‐Wei
Nien, Feng‐Jung
Cheng, Mei‐Fang
Chiu, Wei‐Yih
Lin, Chia‐Chi
Kuo, Ting‐Chun
Wu, Wan‐Chen
Chiu, I‐Hsuan
Hu, Hsiang‐Wei
Wang, Chih‐Yuan
Shih, Shyang‐Rong
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  organization: Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine
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  organization: National Taiwan University College of Medicine
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Keywords fusion genes
thyroid cancer
mutations
oncogene
metastasis
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Notes The first three authors are co‐first authors.
Funding
This work was supported by Wong‐Yuan Endocrine Fund, Taiwan; the Liver Disease Prevention and Treatment Research Foundation, Taiwan; National Taiwan University; National Taiwan University Hospital; National Science and Technology Council (Taiwan).
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Snippet ABSTRACT Background Distant metastasis is a leading cause of thyroid cancer (TC)‐related deaths. Genetic profiling is typically limited to one sample per...
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...
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...
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StartPage 1907
SubjectTerms Adult
Aged
Female
Fibroblast growth factor receptor 2
fusion genes
Genetic analysis
High-Throughput Nucleotide Sequencing
Humans
Male
Metastases
Metastasis
Middle Aged
Mutation
mutations
Neoplasm Metastasis - genetics
oncogene
Thyroid cancer
Thyroid gland
Thyroid Neoplasms - genetics
Thyroid Neoplasms - pathology
Title Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fhed.28100
https://www.ncbi.nlm.nih.gov/pubmed/39936351
https://www.proquest.com/docview/3229015997
https://www.proquest.com/docview/3165855248
Volume 47
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