DICER1 Variants in Pediatric and Young Adult Thyroid Nodules
Authors' conclusion
Variants of the DICER1 gene are frequently found in the thyroid nodules of pediatric and young adult patients. In our patients, DICER1-positive PTCs showed low invasiveness.
Study context
- Population
- Pediatric and young adult patients (aged 2–21 years) with thyroid nodules; 275 fresh-frozen nodule samples and 92 fine-needle aspiration biopsy (FNAB) samples
- Participants
- 350 participants
- Exposure
- DICER1-positive vs DICER1-negative papillary thyroid carcinoma (PTC)
- DICER1-positive PTCn = 8
- Outcome
- Detection of DICER1 gene variants (NGS and MLPA) and correlation with clinicopathological data and prognosis in thyroid carcinoma
Methodological detailsPeripheral blood analysed from patients with DICER1-positive tumours
- Peripheral blood analysed from patients with DICER1-positive tumours
Main finding
As reported in the abstract
Prevalence of DICER1 variants
DICER1 variants, all patients
24/350 (6.9%; 95%CI [4.4;10.0])
DICER1 variants, benign fresh-frozen tissue
10/119 (8.4%; [4.1;14.9])
DICER1 variants, PTC
8/141 (5.7%; [1.9;9.5])
DICER1 variants, FNAB
6/86 (7.0%; [4.1;14.6])
Observational data: associations, not effects.
Further findings
- Clinicopathological features of DICER1-positive vs DICER1-negative PTC · associated with follicular subtype
- P = 0.001
- Clinicopathological features of DICER1-positive vs DICER1-negative PTC · associated with encapsulation
- P = 0.006
- Clinicopathological features of DICER1-positive vs DICER1-negative PTC · larger with DICER1-positive
- P = 0.035
- Clinicopathological features of DICER1-positive vs DICER1-negative PTC · no extrathyroidal extension with DICER1-positive
- P = 0.039
- Clinicopathological features of DICER1-positive vs DICER1-negative PTC · less frequent with DICER1-positive
- P = 0.003
- Excellent response to treatment, DICER1-positive PTC
- 75%
Variant type among DICER1-positive patients
- Germline DICER1 variants
- 11/24 (45.8%; [25.6;67.2])
- Two somatic (biallelic) variants
- 9/24 (37.5%; [18.8;59.4])
- Somatic deletions ≥3 Mbp
- 2/24 (8.3%; [1.0;27.0])
Original publication
DICER1 Variants in Pediatric and Young Adult Thyroid Nodules. Thyroid. Published 16 September 2024. doi:10.
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