EP22.19: Pelvic neurofibroma in a patient with Von Recklinghausen disease: a case report

Neurofibromas are benign nerve sheath tumours arising from the peripheral nervous system. These tumours can arise either de novo from a large nerve, thus usually occurring close to a plexus or from a pre-existing nerve-sheath tumour. The majority of neurofibromas are sporadic and solitary; in case of multiple lesions, neurofibromatosis Type 1 (NF1) should be considered. Symptoms may include pelvic pain, urinary and sexual dysfunction. Malignancy is rare, but patients with NF1 have a 10% lifetime risk of developing a malignant tumour. We report a case of a 42-year-old woman with right crural pain in the last few months referred to our Department. Transvaginal ultrasound examination showed a rounded solid mobile mass in the right parametrium, measuring 34x44x41 mm, with regular margins, without posterior acoustic shadows, poorly vascularised at colour Doppler examination. MRI confirmed the presence of the lesion. Patient underwent an ultrasound-guided biopsy of the lesion and histological examination diagnosed a mesenchymal neoplasm with features consistent with a benign tumour of the peripheral nerve sheaths, and specifically a schwannoma. Patient underwent surgery, and the excision of the right paravaginal mass was performed. Final histology report was positive for a neurofibroma, characterised by spindle cells with S100 positivity. After histological report genetic tests were performed and the diagnosis of NF1 was made. In conclusion, pelvic neurofibroma is a rare entity that should be considered in the differential diagnosis of pelvic masses and may be considered in patient with NF1. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.