Somatic DICER1-Mutant Benign Thyroid Nodules in Adults: A Group of Follicular Nodular Disease With Continuous Growth
Authors' conclusion
Somatic DICER1 2-hit mutations represent a notable percentage in adult patients with TFND, and DICER1-mutant benign thyroid nodules were characterized by continuous growth.
Study context
- Population
- Adult-onset thyroid nodules with a pathological diagnosis
- Participants
- 931 thyroid nodules
- Comparison
- DICER1-mutant vs DICER1 wild-type benign thyroid nodules and normal thyroid tissue
- DICER1-mutantn = 13
- Outcome
- Prevalence of somatic DICER1-mutant non-MNG benign thyroid nodules
Methodological detailstargeted sequencing, organoid culture, transcriptomic analysis
- Targeted sequencing
- Organoid culture
- Transcriptomic analysis
Main finding
As reported in the abstract
Prevalence of DICER1 hotspot-mutant benign nodules
- Benign thyroid nodules with DICER1 hotspot mutations among 931 nodules
- 13
Further findings
| Outcome | P value |
|---|---|
| Transcriptomic scores, DICER1-mutant nodules vs normal thyroid tissueDICER1-mutant vs Normal thyroid tissue · higher with DICER1-mutant | P = 0.0141 |
| Transcriptomic scores, DICER1-mutant nodules vs normal thyroid tissueDICER1-mutant vs Normal thyroid tissue · lower with DICER1-mutant | P = 0.0001 |
Growth of DICER1-mutant nodules
- DICER1-mutant nodules with substantial growth
- 38.5%
- Nodules with duration >2 years substantially enlarged
- P = 0.0448
- Thyroid follicular nodular disease (TFND) nodules with DICER1 mutations grew faster than those with wild-type DICER1
Transcriptomic scores, DICER1-mutant nodules vs normal thyroid tissue
- Similar thyroid differentiation scores
- Follicular polarity genes (CDH16, SLC5A5, TSHR, TPO) downregulated in DICER1-mutant nodules
Organoid culture
- Organoid of a DICER1-mutant nodule showed increased active follicular formation
Original publication
Somatic DICER1-Mutant Benign Thyroid Nodules in Adults: A Group of Follicular Nodular Disease With Continuous Growth. J Clin Endocrinol Metab. Published 28 October 2024. doi:10.
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