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Penile squamous cell carcinoma in neurofibromatosis type 1 (NF1): RAS-pathway mechanisms and management — A case report

Year: 2025

Type: article

Abstract: Neurofibromatosis type 1 (NF1) predisposes to neural and occasionally epithelial malignancies. We report a 65-year-old man with NF1 who presented with urethral obstruction, meatal discharge, and glans swelling. Imaging identified a 22×25 mm hypervascular penile lesion invading the corpus spongiosum and anterior urethra. Biopsy confirmed well-differentiated squamous cell carcinoma. Staging showed no distant disease; inguinal FNA was negative. He underwent radical penectomy with perineal urethrostomy; margins were clear, and recovery was uneventful. This rare occurrence highlights RAS-pathway plausibility, supports prompt biopsy of changing genital lesions in NF1, and recommends HPV testing, molecular profiling, and multidisciplinary follow-up. • Penile squamous cell carcinoma (SCC) in neurofibromatosis type 1 (NF1) is extremely uncommon, suggesting a possible link between NF1 and epithelial cancers. • A 65-year-old man with chronic urethral stricture developed urinary obstruction, meatal discharge, and a penile mass invading the corpus spongiosum. • Biopsy confirmed SCC; radical penectomy with perineal urethrostomy achieved clear margins and no metastasis. • NF1-related RAS/MAPK dysregulation supports SCC risk, highlighting the need for prompt biopsy, HPV testing, and close follow-up.

Source: Urology Case Reports

DOI: 10.1016/j.eucr.2025.103257

Authors: Babak Javanmard, Sina Samenezhad, Dorna Rafighi, Lena yaghoubpour, nasim Dehghan

Institutions: Shahid Beheshti University, Shahid Beheshti University of Medical Sciences, Islamic Azad University, Tehran

Language: English

Topic: Genital Health and Disease

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,160