ISSN: 2642-6145
Authors:
Penile squamous cell cancer (pSCC) is a rare tumor usually associated with an aggressive clinical course. We examined molecular landscape of 23 pSCC cases and correlated the results with HPV status and survival. All the tumors were tested for p16 immunohistochemical stain and human papilloma virus (HPV), high risk RNA in-situ hybridization studies. Fourteen of twenty-three patients (61%) harbored telomerase reverse transcriptase-promoter (TERT-p) alterations. All fourteen mutations occurred in HPV-independent tumors. Patients with TERT-p mutations did not impact OS (21 months vs. 33 months; Hazard ratio 1.129; p value 0.814) or CSS (16.5 months vs. 14 months. NOTCH1 mutation was detected in 5 tumors (22%) that were HPV-independent. Both the OS and CSS were significantly better in tumors harboring this mutation (75 months vs. 16 months; Hazard ratio 4.473; p value 0.0172 and 16 months vs. 6.5 months. All 5 NOTCH1 mutated tumors had TERT-p alterations. Fourteen (61%) patients had mutations involving TP53 gene. Although there was no difference in OS (21 months vs. 14 months; Hazard ratio 1.404; p value 0.53) between the patients with TP53 mutations compared to those without; the CSS was significantly better (17 months vs. 13 months; Hazard ratio 4.028; p value 0.0046). Twelve of the patients with TP53 mutations had alterations involving TERT-p and all the patients with NOTCH1 mutations had TP53 mutations in their tumors. In the present cohort, tumors with TERT-p and NOTCH1 mutations were HPV independent.
Keywords: Genomic; Cell Carcinoma; Prognostic; Biomarkers; Pathogenesis