Transformation of a gluteal type 1 plexiform neurofibroma into a high-grade malignant peripheral nerve sheath tumor:...

Neurofibromatosis type 1 is a rare autosomal dominant disorder with heterogeneous clinical manifestations. Under certain conditions, plexiform neurofibromas may undergo malignant transformation into the more aggressive malignant peripheral nerve sheath tumor (MPNST). This case report describes a 43-year-old male with neurofibromatosis type 1 who underwent preoperative interventional vascular therapy followed by resection of a giant gluteal mass. Postoperative histopathological examination confirmed malignant transformation to MPNST. The key features of this case include a giant and rapidly progressive tumor, diagnostic challenges related to a history of trauma, tumor-related cachexia, and a multidisciplinary treatment strategy involving preoperative embolization. This case highlights the importance of regular follow-up in patients with neurofibromatosis type 1, accurate differential diagnosis, and early recognition of malignant transformation. In addition, it demonstrates the value of preoperative embolization in the management of highly vascular tumors.