Molecular Pathological Markers and TERT Promoter Mutations: Correlations with Clinicopathological Features and Distant Metastasis in Turkish Patients with Papillary Thyroid Carcinoma

Objective: Studies concerning the frequency of BRAFV600E, TERT promoter, and NRAS mutations, RET/PTC and PAX8/PPARγ rearrangements, and their correlations with distant metastasis and several clinicopathological parameters are lacking in Turkish papillary thyroid carcinoma (PTC) patients.

Methods: Mutations were detected by real-time polymerase chain reaction (PCR) from paraffinembedded tumor tissues obtained from 42 PTC patients (16 with and 26 without distant metastasis, median age 52 years, range 21-80).

Results: The follow-up period was a median of 41.38 (range 1-168) months. A relationship was found between distant metastasis and aggressive histological variant (P=.008), capsular (P=.001), lymphovascular (P=.001) and extrathyroidal invasion (P=.002), advanced stage (P=.002), and recurrence (P=.008). Mortality was greater in the distant-metastatic group (P=.002). The frequency of BRAFV600E mutation was 67.5% (27/40). Of the BRAFV600E mutation-positive group, 22.2% (6/27) had distant metastasis and 77.8% (21/27) had no metastasis (P=.006). No significant difference existed between BRAFV600E mutation-positive and -negative groups concerning the clinicopathological features. The mortality rate was higher in the BRAF mutation-negative group compared with the positive group (P=.03). The frequency of TERT mutation (all at position C228T) was 9.5% (4/42), showing no correlation with any clinicopathological feature. NRAS mutation and PAX8/PPARγ rearrangement were not observed. RET/PTC gene rearrangement was detected in only 2 patients.

Conclusion: Our findings suggest that molecular changes, contrary to previous observations in different populations, are not related with aggressive behavior and distant metastasis in Turkish PTC patients. Low number of patients and short follow-up, however, might have hindered the ability to draw accurate conclusions regarding molecular markers and poor prognosis in such a slow-growing carcinoma type.

Cite this article as: Yılmaz E, Güler G, Kurtulan O, et al. Molecular pathological markers and TERT-promoter mutations: Correlations with clinicopathological features and distant metastasis in Turkish patients with papillary thyroid carcinoma. Endocrinol Res Pract. 2023;27(4):191-198.