Molecular Profiling of Low-Risk Papillary Thyroid Carcinoma (mPTC) on Active Surveillance
Authors' conclusion
The molecular profile of mPTC is like that of bigger PTC with the exception that none of them showed a TERT promoter mutation. The identification of the most common driver mutations, such as BRAF, RAS, or gene fusions, is not helpful for the early identification of mPTC that will show disease progression during follow-up in the AS program.
Study context
- Population
- Low-risk PTC ≤1 cm (mPTC) on active surveillance
- Participants
- 95 FNA cytology specimens
- Exposure
- Molecular profile vs clinical outcome
- Outcome
- Molecular signature of cases with disease progression during active surveillance (AS)
Methodological detailsprospective enrollment, next-generation sequencing of fine-needle aspiration cytology specimens, TERT promoter analysis by Sanger sequencing or droplet digital PCR
- Prospective enrollment
- Next-generation sequencing of fine-needle aspiration cytology specimens
- TERT promoter analysis by Sanger sequencing or droplet digital PCR
Main finding
As reported in the abstract
Correlation of molecular profile with clinical outcome
BRAF p.V600E (most common somatic alteration)
66.3%
63/95
RAS mutations (2 NRAS, 1 KRAS)
3.2%
3/95
Gene fusions (1 RET-PTC1, 1 TFG-NTRK1, 1 ALK imbalance)
3.2%
3/95
TERT promoter mutations (C228T and C250T) in analyzed mPTC (84/95)
0
Observational data: associations, not effects.
Original publication
Molecular Profiling of Low-Risk Papillary Thyroid Carcinoma (mPTC) on Active Surveillance. J Clin Endocrinol Metab. Published 26 August 2024. doi:10.
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