Evaluation of Telomerase Reverse Transcriptase Expression in Squamous Cell Carcinoma of the Skin

Abstract

Introduction Squamous cell carcinoma (SCC) is highly invasive malignant tumor showing keratinocytic differentiation and is often associated with chronic exposure to UV light. Telomerase is RNA dependent DNA polymerase that causes addition of telomeric repeat DNA sequences to chromosomal ends. Recently, UV signature mutations have been identified in core promoter region of TERT gene, which encodes the main catalytic subunit leading to overexpression in cutaneous melanoma. However, its role and expression pattern have not been studied in eyelid skin SCC.

Objectives Present study aimed to analyze the presence of telomerase reverse transcriptase (TERT) in eyelid SCC, as its expression pattern and mutational status have not been studied in SCC.

Materials and Methods Nineteen cases of eyelid SCC were evaluated for the presence of TERT protein using monoclonal antibody against TERT, and its mutational status was verified using PCR and DNA sequencing. Bioedit software was used for analyzes and primers were vindicated using NCBI Primer Blast. Results were correlated with clinicopathological features of SCC.

Results A C to T mutation was observed in 6 of 19 SCC cases. Positive expression of TERT was found in 57% of the cases analyzed and it showed a significant association with keratinocytic differentiation (p = 0.04).

Conclusion Relation between TERT promoter mutation and TERT immunohistochemistry is studied for the first time in eyelid skin SCC. Our results suggested that overexpression of TERT may contribute to the aggressive behavior associated with SCC and such patients may warrant aggressive treatment.

Keywords

squamous cell carcinoma - telomerase reverse transcriptase - eyelid - promoter mutation - immunohistochemistry

Publication History

Article published online:
13 August 2021