TERT promoter mutations in penile squamous cell carcinoma: high frequency in non-HPV-related type and association with favorable clinicopathologic features

Abstract Purpose Penile carcinoma is a rare malignant neoplasm with largely unknown molecular pathogenesis. Telomerase reverse transcriptase promoter ( TERT- p) mutations have been detected in several types of human malignancies. The aim this study was to investigate the presence p penile squamous cell carcinomas (SCCs) and their associations clinicopathologic features. Methods In retrospective study, Sanger sequencing performed detect formalin-fixed paraffin-embedded tissue samples from 37 patients SCC, 16 cutaneous 4 non-neoplastic penile/skin tissue. expression p16 INK4a Ki-67 investigated via immunohistochemistry. Associations TERT-p mutation clinicopathological factors, immunohistochemical results, clinical outcome were statistically analyzed. Results Recurrent identified 18 out (48.6%) SCCs, including all 3 situ cases. significantly more frequent non-human papilloma virus (HPV)-related SCC than non-HPV-related based on both histologic classification immunoreactivity. Furthermore, associated low grade, mitotic count, absence necrosis, Ki-67/MIB-1 labeling index, lymph node or distant metastasis. Conclusion Our shows TERT -p are most somatic SCC. addition, far HPV-related indicating may role tumorigenesis distinct