Exploring the Molecular Features and Clinicopathological Correlations of Diffuse Sclerosing Papillary Thyroid Carcinoma
Authors' conclusion
DSV-PTC demonstrates substantial molecular heterogeneity. RET fusions are linked to more aggressive behaviour, and paediatric cases often show extensive locoregional spread. Coexisting NTRK and TERT alterations may signal high-risk progression, highlighting the value of molecular stratification in management.
Study context
- Population
- Diffuse sclerosing variant of PTC (diffuse sclerosing variant of papillary thyroid carcinoma (DSV-PTC)); 8 paediatric and 43 adult cases
- Participants
- 51 participants
- Exposure
- RET fusion-positive vs BRAF-mutated DSV-PTC
- Outcome
- Molecular alterations
Main finding
As reported in the abstract
- BRAF mutation
- 39.2%
- RET fusions
- 25.5%
- CCDC6-RET
- 23.5%
- NCOA4-RET
- 2.0%
- ETV6-NTRK3 fusion
- 5.9%
- TERT promoter mutations
- 2.0%
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Clinicopathological features, RET fusion vs BRAF-mutatedRET fusion vs BRAF-mutated · significantly larger primary tumours with RET fusion | P = 0.016 |
| Clinicopathological features, RET fusion vs BRAF-mutatedRET fusion vs BRAF-mutated · larger metastatic nodes with RET fusion | P = 0.009 |
| Clinicopathological features, RET fusion vs BRAF-mutatedRET fusion vs BRAF-mutated · higher T stages with RET fusion | P = 0.046 |
Paediatric vs adult cases
- Paediatric patients had higher rates of lateral neck metastasis and extrathyroidal extension but fewer BRAF mutations
Recurrence
- Overall recurrence rate
- 15.7%
- Coexisting ETV6-NTRK3 fusion and TERT mutation progressed to ATC and died of disease
- 1 patient
- Earlier recurrence in RET fusion cases
Original publication
Exploring the Molecular Features and Clinicopathological Correlations of Diffuse Sclerosing Papillary Thyroid Carcinoma. Clin Endocrinol (Oxf). Published 11 August 2025. doi:10.
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