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Outcomes of TSHR mutations in indeterminate thyroid nodules
Angela Magri1, Gianluca Savoia1, Nicholas J Rutenberg2
1Faculty of Medicine and Health Sciences, McGill University, 571 Avenue Kindersley, Mount-Royal, Montreal, QC, Canada.
Cancer Genetics
|April 8, 2026
Summary
Thyrotropin receptor (TSHR) mutations are linked to lower TSH levels and are generally benign. However, co-occurring genetic alterations may increase thyroid malignancy risk.
Area of Science:
- Endocrinology
- Molecular Biology
- Oncology
Background:
- Thyrotropin receptor (TSHR) mutations are implicated in autonomously functioning thyroid nodules (AFTNs).
- Assessing the role of TSHR mutations in AFTN development and thyroid malignancy is crucial.
Purpose of the Study:
- To investigate the association between TSHR mutations and AFTNs.
- To evaluate the impact of TSHR mutations on thyroid malignancy risk.
Main Methods:
- A multicenter retrospective study of 1211 patients with indeterminate thyroid cytology (Bethesda III-IV) was conducted.
- Molecular testing (ThyroseqV3®) was performed, including 56 TSHR-positive patients and 90 controls.
- Thyroid-stimulating hormone (TSH) levels were monitored over 1-3 years post-testing.
Main Results:
- TSHR mutations correlated with lower TSH levels, particularly at higher allele frequencies.
- Isolated TSHR mutations were associated with benign outcomes.
- Co-occurring genetic alterations alongside TSHR mutations were linked to malignant outcomes.
Conclusions:
- TSHR mutations are predominantly benign and associated with suppressed TSH levels.
- The presence of co-mutations may impact thyroid function and increase the risk of thyroid cancer.
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