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.

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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
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article

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

Babak Javanmard, Natasha Dehghan, Sina Samenezhad, Dorna Rafighi et al.
Urology Case Reports
Neurofibromatosis and Schwannoma Cases
article

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

Babak Javanmard, Natasha Dehghan, Sina Samenezhad, Dorna Rafighi, Lena yaghoubpour
article en

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.

Urology Case ReportsVol. 63
Shahid Beheshti University of Medical Sciences (IR)
Openalex Percentile: Top 56%
Neurofibromatosis and Schwannoma Cases
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