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

## TL;DR

A rare case of penile cancer in a man with neurofibromatosis type 1 highlights a possible link to RAS pathway issues and the importance of early diagnosis.

## Contribution

This case report suggests a potential connection between NF1 and epithelial cancers via RAS/MAPK dysregulation.

## Key findings

- A 65-year-old man with NF1 developed penile squamous cell carcinoma invading the corpus spongiosum.
- Radical penectomy achieved clear margins with no metastasis detected.
- The case supports the need for prompt biopsy and molecular profiling in NF1 patients with suspicious genital lesions.

## 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.

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.