Molecular Characterization and Phenotype-Genotype Correlation of Childhood Thyroid Nodules and Cancers: A Study of 62 Patients
Authors' conclusion
BRAFV600E and gene fusions involving RET, NTRK, and ALK were the most frequent pathogenic findings in pediatric DTC, with implications for risk stratification and tailored management. Early molecular analysis can guide prognosis and treatment in patients with initial benign or indeterminate diagnoses.
Study context
- Population
- Pediatric patients with thyroid nodules and cancer, aged 2.67–19.61 years (mean 14.18 ± 3.45 years), 50 female, 12 male; tertiary care centre
- Participants
- 62 patients
- Exposure
- Differentiated thyroid cancer (DTC) vs Benign vs Other
- DTCn = 37
- Benignn = 14
- Othern = 9
- Outcome
- Molecular characterization (next-generation sequencing (NGS) of 34 genes for DNA variants and RNA sequencing for gene fusions) of childhood thyroid nodules and cancer and genotype-phenotype relationship
Methodological detailssingle tertiary care centre, next-generation sequencing, Mean follow-up 5.06 ± 3.99 years
- Single tertiary care centre
- Next-generation sequencing
- Mean follow-up 5.06 ± 3.99 years
Main finding
As reported in the abstract
Pathogenic molecular findings
Pathogenic variants in DTC patients
80%
BRAFV600E, most common variant
37%
RET, NTRK and ALK fusions in DTC patients
32%
Observational data: associations, not effects.
Original publication
Molecular Characterization and Phenotype-Genotype Correlation of Childhood Thyroid Nodules and Cancers: A Study of 62 Patients. Horm Res Paediatr. Published 31 October 2025. doi:10.
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