Malignant peripheral nerve sheath tumor of the cervix in an adolescent with neurofibromatosis type 1: A case report and review of literature

一例患有1型神经纤维瘤病的青少年宫颈恶性周围神经鞘瘤:病例报告及文献复习

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Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) of the cervix are rare, particularly in patients with neurofibromatosis type 1 (NF1). This report describes a cervical MPNST in an 18-year-old patient with no history of sexual activity, abnormal vaginal discharge, and prolonged menstruation. She had more than six café-au-lait spots on her body since birth and was diagnosed with NF1 at 2 years of age. Positron emission tomography-computed tomography revealed a large pelvic mass and lung and bone metastases. Biopsy confirmed MPNST. Immunohistochemical staining showed diffuse positivity for CD10, approximately 30% positivity for cyclin D1, partial positivity for α-SMA, desmin, and MyoD1, and negativity for myogenin, S-100, and SOX-10. A cancer gene panel identified several genetic abnormalities, but none were actionable mutations. Despite systemic chemotherapy, the tumor progressed rapidly, and the patient died 8 weeks post-admission. Early diagnosis of MPNST is crucial. In patients with NF1, even mild symptoms can indicate MPNST.

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