TERT promoter mutations are associated with poor prognosis in cutaneous squamous cell carcinoma

Abstract

Background: Telomerase reverse transcriptase gene (TERT) promoter (TERTp) mutations have been reported as potential predictors of poor prognosis in several cancers, but the prognostic value of TERTp mutations for cutaneous squamous cell carcinoma (cSCC) has not been determined.

Objective: To evaluate the frequency of TERTp mutations and correlate it with clinicopathologic features and patient outcome.

Methods: We performed genetic profiling of TERTp mutations in a retrospective series of cSCCs. The predictive value of TERTp mutations and clinicopathologic parameters were assessed by using logistic regression models.

Results: A total of 152 cSCCs from 122 patients were analyzed for TERTp mutations; the mutation rate was 31.6% (48 of 152), and it was higher in invasive cSCC (42 of 121 [34.7%]) than in in situ cSCC (6 of 31 [19.4%]). Age older than 75 years (odds ratio [OR], 14.84; P = .013] and TERTp mutation (OR, 8.11; P = .002) were independent predictors of local recurrence. TERTp mutation (OR, 15.89; P = .022) was independently associated with higher risk of lymph node metastasis.

Limitations: The restricted number of metastatic cases.

Conclusion: TERTp mutations may prove to be a molecular biomarker with prognostic significance in invasive cSCC, but larger studies are needed.

Keywords: TERT; TERT promoter mutation; biomarker; cutaneous squamous cell carcinoma; metastases; outcome; prognosis; prognostic biomarker; recurrence; squamous cell carcinoma.