Multiplatform Molecular Testing as an Adjunct to Fine Needle Aspiration in the Evaluation of Pediatric Thyroid Nodules
Authors' conclusion
This is the first study to report on the use of combined oncogene and miRNA analysis of FNA cytopathology in a pediatric cohort. Multiplatform molecular testing is a potentially useful adjunct to FNA as a presurgical diagnostic tool in the evaluation of pediatric thyroid nodules.
Study context
- Population
- Pediatric patients aged 7 to 20 years (mean age 13.9 years) with thyroid nodules, Lurie Children's Hospital, October 2020–March 202339 cases
- Participants
- 37 patients
- Comparison
- Multiplatform molecular testing (ThyGeNEXT oncogene panel + ThyraMIR microRNA (miRNA) classifier) vs final surgical pathology or repeat fine needle aspiration (FNA)
- Outcome
- Cohort molecular characteristics; test sensitivity and specificity
Methodological detailsretrospective, archived FNA samples, single referral center
- Retrospective
- Archived FNA samples
- Single referral center
Performance
As reported in the abstract
Detection of malignant pathology
| Test or model | Sensitivity | Specificity |
|---|---|---|
| Multiplatform molecular testing | 90.5% | 88.9% |
Multiplatform molecular testing
Sensitivity90.5%
Specificity88.9%
- Most common oncogenic alterations among malignant cases: BRAFV600E variant
- 38%
- RET-PTC1 fusions
- 14%
- NRAS variants
- 14%
- Malignant samples with positive (high-risk) miRNA profiles
- 19 of 21
- Benign cases with negative (low-risk) miRNA profiles
- 15 of 18
Original publication
Multiplatform Molecular Testing as an Adjunct to Fine Needle Aspiration in the Evaluation of Pediatric Thyroid Nodules. J Clin Endocrinol Metab. Published 4 March 2025. doi:10. 1210/ clinem/ dgaf110
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