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TERT promoter variants in risk stratification of Polish patients with papillary thyroid carcinoma
Dagmara Rusinek1, Aleksandra Pfeifer1, Jolanta Krajewska2
1Department of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice, Poland.
Introduction:
Despite extensive research, no independent molecular markers have been identified that could optimize the treatment of patients with papillary thyroid carcinoma (PTC). Proper recurrence risk stratification is crucial for further clinical management and determining the extent of treatment aggressiveness.
Objectives:
We focused on the TERT promoter (TERTp) variants, identified in previous research as a poor prognostic factor in patients with PTC, with the aim to analyze the clinical utility of TERTp variants in risk‑stratification of PTC patients.
Patients And Methods:
We analyzed a set of 188 PTCs for BRAF V600E and TERTp variants to investigate the associations of TERTp variants with clinical factors and their impact on time‑to‑progression.
Results:
Key observations included an association between the co‑occurrence of BRAF V600E and TERTp variants and persistent disease, poorer response to treatment, and recurrences, as compared with PTCs without these alterations. The results also suggest that the presence of TERTp variants is associated with a shorter time‑to‑relapse.
Conclusions:
Detection of TERTp variants should be considered in routine diagnostic procedures, as this would significantly improve patient classification into risk groups.
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