Thyroid disease

Multiplatform Molecular Testing as an Adjunct to Fine Needle Aspiration in the Evaluation of Pediatric Thyroid Nodules

J Clin Endocrinol MetabPublished Diagnostic accuracy study

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 modelSensitivitySpecificity
Multiplatform molecular testing90.5%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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