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Somatic mutations in the TG and RELA genes specific for radioiodine-refractory thyroid cancer

Chanan Suprakun1, Pattarin Nuwongsri2, Siraprapa Tongkobpetch3,4

  • 1Division of Nuclear Medicine, Department of Radiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. Chanan.s@chula.ac.th.

Scientific Reports
|July 1, 2025
PubMed

Insights

New genetic variants in TG and RELA genes are linked to radioactive iodine-refractory (RAI-R) thyroid cancer. These findings could help identify RAI-R status early for better treatment strategies.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Radioactive iodine-refractory (RAI-R) thyroid cancer presents a poor prognosis and limited therapeutic avenues.
  • Early identification of RAI-R status is critical for effective patient management and treatment optimization.

Purpose of the Study:

  • To identify specific genetic variants that differentiate RAI-R thyroid cancer from radioiodine-sensitive (RAI-S) thyroid cancer.
  • To explore the potential of these variants as early biomarkers for predicting RAI-R status.

Main Methods:

  • Whole-genome and whole-exome sequencing were performed on tumor DNA from RAI-R and RAI-S patients.
  • RNA analysis and immunohistochemistry (IHC) were utilized to evaluate candidate genetic variants.
  • Quantitative reverse transcription PCR (qRT-PCR) was employed to assess NIS gene expression levels.

Main Results:

  • Somatic heterozygous variants in the TG gene were identified in three progressive RAI-R patients.
  • A somatic nonsense variant in the RELA gene was found in one RAI-R patient.
  • Lower NIS expression was observed in RAI-R patients with TG or RELA variants, contrasting with higher NIS expression in RAI-S patients.

Conclusions:

  • Somatic variants in the TG and RELA genes are associated with RAI-R thyroid cancer.
  • These genetic variants show potential as early biomarkers for identifying RAI-R status.
  • The identification of these variants may facilitate the development of more personalized treatment strategies for thyroid cancer patients.
Keywords:
Genetic variantsRAIRRELA geneRadioiodine-resistant thyroid cancerSomatic mutationsTG gene

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