Penile squamous cell carcinoma in neurofibromatosis type 1 (NF1): RAS-pathway mechanisms and management — A case report
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.
Authors
- Babak Javanmard (ORCID: https://orcid.org/0000-0002-0327-8548)
- Natasha Dehghan
- Sina Samenezhad (ORCID: https://orcid.org/0009-0002-6125-471X)
- Dorna Rafighi (ORCID: https://orcid.org/0000-0001-5438-5100)
- Lena yaghoubpour
Institutions
- Shahid Beheshti University of Medical Sciences (IR)
Publication Details
- Journal
- Urology Case Reports
- Published
- 2025-10-29
- DOI
- https://doi.org/10.1016/j.eucr.2025.103257
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00