Implications of TERT promoter mutations and telomerase activity in solid tumors with a focus on genitourinary cancers.

INTRODUCTION

The reactivation of telomerase represents a key moment in the carcinogenesis process. Mutations in the central promoter region of the telomerase reverse transcriptase (TERT) gene cause telomerase reactivation in approximately 90% of solid tumors. In some of these, its prognostic and predictive role in response to treatments has already been demonstrated, in others (such as tumors of the genitourinary tract like urothelial carcinoma) data are controversial and the research is still ongoing. In the future, TERT promoter mutations and telomerase activity could have diagnostic, prognostic, and therapeutic applications in many types of cancer.

AREAS COVERED

We performed a review the literature with the aim of describing the current evidence on the prognostic and predictive role of promoter mutations. In some tumor types, promoter mutations have been associated with a worse prognosis and could have a potential value as biomarkers to guide therapeutic decisions. Mutations in promoter seems to make the tumor particularly immunogenic and more responsive to immunotherapy, although data is controversial.

EXPERT OPINION

We described the role of promoter mutations in solid tumors with a particular focus in genitourinary cancers, considering their frequency in this tract.