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Medical City Arlington
Neurofibromatosis 1, nerve sheath neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Internal Medicine | Neoplasms | Nervous System Diseases
Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas, most commonly seen in patients with Neurofibromatosis type 1 (NF1), that are characterized as aggressive with high rate of local recurrence. Among NF1 patients, the risk of developing MNPSTs is approximately 8-13% over a lifetime. Primary MPNST is exceedingly rare, of which the vast majority are concentrated in the head and neck region. Here, we present a case of a 40-year-old male with NF1 who presented with a giant MPNST that originated in the right proximal femur. The mass was treated with complete surgical resection with right hip disarticulation. In a matter of 4 months, the patient had a rapid progression with metastatic disease to the brain and lungs. We will use this case as an opportunity to explore the current guidelines for post-surgical malignant sarcomas especially in those with neurofibromatosis and the need for more aggressive and active adjuvant treatments.
HCA Healthcare Graduate Medical Education
Pole, Akshaj; Ford, Danielle; and Pollard, Elizabeth, "Rare Presentation of Primary Malignant Peripheral Nerve Sheath Tumor of the Femur in Neurofibromatosis-1" (2023). North Texas Research Forum 2023. 5.