Frequency of TERT promoter mutation and its association with clinicopathologic factors in papillary thyroid carcinoma in Kerala population.

Abstract

Background: The prevalence of papillary thyroid cancer (PTC) is increasing in India and other high-income countries. A high prevalence of thyroid cancer has been reported in Kerala-a state in southern India. A significant conclusion is that Thiruvananthapuram, the capital of Kerala, ranks first among males and second among women in terms of the incidence of TC in India.

Objectives: The objective of this study was to investigate the clinical significance of TERT Promoter mutations in thyroid carcinoma. Specifically, this study aimed to determine the prevalence of TERT promoter mutations in a cohort of patients with thyroid carcinoma and analyze the association between TERT Promoter mutations and clinicopathological characteristics of thyroid carcinoma.

Materials and methods: In this study, patients with PTC were enrolled between 2020 and 2021. Mutation analysis of TERT gene promoter was successfully performed in 47 patients using the PCR amplification of TERT promoter region followed by direct sequencing.

Results: PTC harboring TERT Promoter mutation was detected in 18 out of 47 patients (38%). The presence of TERT promoter mutations and various clinicopathological characteristics were compared. Statistical analysis reveals that the clinicopathological parameters, such as clinical as well as pathological stage of disease have significant association with the TERT promoter mutations.

Conclusions: These findings highlight the potential of TERT promoter mutations as valuable prognostic indicators and suggest their potential utility as therapeutic targets in PTC.