Radical cystoprostatectomy for a locally invasive ganglioneuroma and plexiform neurofibroma of the urinary bladder in an adolescent with neurofibromatosis type 1 (NF1): a case report

Ganglioneuromas are benign, fully differentiated neuroblastic tumors that typically arise in the posterior mediastinum, retroperitoneum, or adrenal glands. Primary involvement of the urinary bladder is exceedingly uncommon, particularly in association with neurofibromatosis type 1 (NF1). A 16-year-old Arab male from a medically underserved area presented with a three-year history of chronic pelvic pain, lower urinary tract symptoms (both irritative and obstructive), and a palpable hypogastric mass. He also reported chronic constipation for 1 year and intermittent gross hematuria for 3 months. At age seven, he had undergone an open biopsy of a pelvic mass diagnosed as a neurofibroma, but was subsequently lost to follow-up due to geographic, financial, and social barriers. Clinical examination revealed multiple (7–8) café-au-lait spots on the back, abdomen, and lower limbs, axillary freckling, and notable penoscrotal edema. Digital rectal examination demonstrated a markedly enlarged, indurated prostate. Contrast-enhanced computed tomography and magnetic resonance imaging revealed a large, irregular, heterogeneous pelvic mass (approximately 11 × 5 cm) with infiltrative features involving the posterior bladder wall, prostate, and perineal region, extending superiorly to the umbilicus. Cystoscopy showed extrinsic trigonal compression with non-visualization of the ureteral orifices due to significant distortion. Intraoperative findings confirmed extensive tumor infiltration into the prostate, precluding safe partial resection. The patient underwent radical cystoprostatectomy with ileal conduit urinary diversion (Bricker procedure). Histopathological examination demonstrated a well-circumscribed but unencapsulated mass composed of interlacing bundles of bland spindle-shaped cells with wavy nuclei in a collagenous and myxoid stroma, with scattered mature ganglion cells. Immunohistochemical staining was diffusely positive for S100 and SOX10. Separate pelvic floor biopsies were consistent with plexiform neurofibroma. Surgical margins were negative. Postoperative recovery was uneventful, and at one-year follow-up, the patient remained asymptomatic with no evidence of recurrence. This case highlights the aggressive local potential of pelvic plexiform neurofibromas and associated ganglioneuromas in NF1, which can lead to significant morbidity when surveillance is interrupted. It underscores the critical importance of lifelong, structured multidisciplinary follow-up in NF1 patients to detect progression before irreversible damage occurs. This report contributes to the limited literature on urogenital ganglioneuroma management and raises consideration for earlier intervention in strategically located lesions, as well as the potential role of emerging targeted therapies such as MEK inhibitors.