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TERT Promoter Mutations in Papillary Thyroid Microcarcinomas.
Dario de Biase1, Greta Gandolfi2, Moira Ragazzi3
11 Department of Medicine (DIMES), Anatomic Pathology Unit, Bellaria Hospital, University of Bologna , Bologna, Italy .
TERT promoter mutations are uncommon in papillary thyroid microcarcinomas (mPTCs). These mutations, found in 4.7% of cases, do not appear to correlate with aggressive features or poor clinical outcomes in mPTCs.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Rising incidence of differentiated thyroid cancer, particularly small papillary thyroid carcinomas (mPTCs), raises concerns about overdiagnosis and overtreatment.
- A need exists for molecular markers to distinguish aggressive thyroid cancers from indolent ones, enabling personalized therapy and reducing overtreatment.
- TERT promoter mutations are linked to aggressiveness in advanced thyroid cancers, but their role in mPTCs remains unexplored.
Purpose of the Study:
- To investigate the occurrence of TERT promoter mutations (-124C>T and -146C>T) in a large cohort of mPTCs.
- To determine if TERT mutations in mPTCs are associated with unfavorable clinical features or outcomes.
Main Methods:
- Analysis of 431 mPTCs cases from six Italian institutions.
- Assessment of TERT promoter mutational status using next-generation sequencing.
Main Results:
- TERT promoter mutations were identified in 4.7% of the studied mPTCs.
- No significant association was found between TERT promoter mutations and aggressive features or clinical outcome in this cohort.
Conclusions:
- TERT mutations are present but infrequent in mPTCs.
- In mPTCs, TERT mutations do not appear to correlate with unfavorable clinical characteristics.
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