Mutations in the telomerase reverse transcriptase promoter and PIK3CA gene are common events in penile squamous cell carcinoma of Italian and Ugandan patients

Somatic mutations in the promoter region of TERT (TERTp) gene are highly frequent in penile carcinoma in Italian and Ugandan patients, predominantly in human papillomavirus (HPV) negative cancers (67.6%). TERTp and PIK3CA hotspot changes coexist in 15.8% of cases. The higher mutant allele frequencies (MAFs) of TERT -124A/-146A compared to PIK3CA E545K MAFs suggest an asynchronous mutation timing. The coexistence of TERTp and PIK3CA mutations may represent a novel co-actionable therapeutic target in penile carcinoma patients.