
Modern Pathology, Год журнала: 2024, Номер unknown, С. 100689 - 100689
Опубликована: Дек. 1, 2024
Penile squamous cell carcinoma (pSCC) represents an uncommon malignancy characterized by stagnant mortality, psychosexual distress, and a highly variable prognosis. Currently, the WHO distinguishes between human papillomavirus (HPV) related HPV independent pSCC. Recently, there has been evolving line of research documenting enrichment HPV-independent pSCC with high tumor mutational burden (TMB) programmed death ligand-1 (PD-L1) expression, as well clusters genes associated status. In this study, we conducted comprehensive next-generation sequencing (NGS) DNA profiling 146 samples using panel consisting 355 tumors. This was correlated immunohistochemical markers prognostic clinical data. A survival analysis recurrent genomic events (found in ≥10 cases) performed. TP53, CDKN2A, ATM, EPHA7, POT1, CHEK1, GRIN2A, EGFR alterations were significantly shortened overall (OS) univariate multivariate analysis. positivity, diagnosed through both p16 immunohistochemistry analysis, displayed no impact on but grade, lymphatic invasion, PD-L1 negativity/weak low TMB. FAT1, CASP8, HRAS more often mutated contrast, pSCCs enriched GRIN2A CHEK1 mutations. PIK3CA, FBXW7, KMT2D mutations NOTCH1, KMT2D, EPHA3, adverse clinical-pathological signs such advanced stage, budding, lymphovascular invasion. We detected 160 potential treatment implications, 21.2% showing homologous recombination pathway. To best our knowledge, study describes largest cohort complex molecular-pathological, clinical, correlating
Язык: Английский