To determine the prevalence of somatic DICER1 mutations in benign thyroid nodules that are not associated with multinodular goiter (non-MNG) and to explore their clinicopathological, molecular, behavioral, and transcriptional characteristics.
Key Findings:
Identified 13 benign thyroid nodules with DICER1 hotspot mutations among 931 nodules, with a significant P-value of .0448 for growth in nodules over 2 years.
38.5% of DICER1-mutant nodules exhibited substantial growth, indicating a notable clinical concern.
DICER1-mutant nodules with durations longer than 2 years showed significant enlargement (P = .0448).
All DICER1-mutant nodules were classified as thyroid follicular nodular disease (TFND), highlighting a specific pathological classification.
DICER1-mutant nodules had higher extracellular signal-related kinase scores (P = .0141) and lower epithelial-mesenchymal transition scores (P = .0001) compared to normal tissues.
Interpretation:
Somatic DICER1 mutations are prevalent in adult patients with thyroid follicular nodular disease (TFND), and these mutations are associated with continuous growth of benign thyroid nodules, suggesting a need for monitoring and potential intervention.
Limitations:
The study is limited to a single institution, which may affect the generalizability of the findings to broader populations.
The small sample size of DICER1-mutant nodules may limit the statistical power and robustness of the conclusions drawn.
Conclusion:
Somatic DICER1 mutations represent a significant percentage of adult benign thyroid nodules, characterized by continuous growth and distinct molecular features.
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