Abstract
Abstract Introduction Since its description in 1743 by François de la Peyronie, penile fibromatosis continues to present an elusive pathogenesis. One of its distinguishing characteristics is the excessive proliferation of fibrogenic myofibroblasts, resulting in the formation of dense fibrous plaques that disrupt the normal cytoarchitecture of the tunica albuginea, giving rise to penile abnormalities. The possible clonal nature of the disease has been investigated by many studies and some have identified occasional karyotypic abnormalities, most commonly involving chromosomes 7, 8, 17, 18, X and Y (Mulhal JP et al 2004). Objective This study aimed to comprehensively analyze the genomic landscape of Peyronie's disease in a significant number of cases using a whole genome copy number variation assay (CNV). The objective was to identify any recurrent chromosomal gains or losses that could shed light on the pathogenesis of this disease, including the potential identification of an underlying clonal process. Methods Thirty-nine surgical specimens were retrospectively examined from men diagnosed with Peyronie's disease, collected between 1992 and 2022 (median age: 56 years, range: 17-73). The study was conducted under the approval of the Institutional Review Board (IRB # 22-006924). Tissue samples were fixed in 10% buffered formalin, embedded in paraffin, and subsequently subjected to histologic review and DNA analysis. DNA extraction followed standard protocols. Among the samples, 22 contained high-quality material suitable for CNV array analysis using the OncoScan SNV array, which encompassed approximately 900 genes/loci with a resolution of 50-125 kb. Additionally, the array included a somatic mutation panel targeting nine cancer-related genes. Results No significant loss or gain of chromosomal material was identified in the twenty-two cases analyzed. However, the somatic mutation panel revealed potential unconfirmed DNA mutations in NRAS, EGFR, and TP53. Ongoing studies are being conducted to confirm these mutations. Conclusions The etiology and pathogenesis of Peyronie's disease remain unresolved, presenting a challenging area of research. However, the findings of this study provide evidence that major recurrent losses or gains of chromosomal material are unlikely to play a significant role in the pathogenesis of this disease. While shedding light on this aspect, it is crucial to acknowledge that further research is necessary to confirm and expand upon these initial observations. Disclosure No.
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