TERT Promoter Mutation Screening in Thyroid Cancer
Author Information
Author(s): Hellgren L. Samuel, Stenman Adam, Jatta Kenbugul, Condello Vincenzo, Larsson Catharina, Zedenius Jan, Juhlin C. Christofer
Primary Institution: Karolinska Institutet, Stockholm, Sweden
Hypothesis
This study aimed to explore the association between size-based risk assessment and TERT promoter mutations in minimally invasive follicular and oncocytic thyroid carcinoma.
Conclusion
TERT promoter mutations in minimally invasive follicular and oncocytic thyroid carcinomas were associated with older patient age but did not affect clinical outcomes.
Supporting Evidence
- TERT promoter mutations were found in 10 out of 84 cases (11.9%).
- Patients with mutated tumors were older compared to patients with wild-type tumors (median age of 71 years vs. 57 years).
- 30% of mutations displayed variant allele frequencies < 10%, suggesting subclonal events.
Takeaway
Some thyroid tumors have a mutation that can make them more dangerous, but in this study, it didn't seem to change how patients did overall.
Methodology
Digital droplet PCR analysis targeting TERT promoter mutational hotspots C228T and C250T was performed on diagnosed tumors.
Limitations
The study had a small sample size and a short follow-up period.
Participant Demographics
Patients had a mean age of 55.7 years, with a median age of 71 years for those with mutated tumors.
Statistical Information
P-Value
0.041
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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