Malignant Peripheral Nerve Sheath Tumor and Epitheloid Sarcoma Associated with Von Recklinghausen Disease: A Case ReportShriya Sharma,1 Pasang Sherpa,2Ganesh Giri2 1Division of Advanced Heart Failure and Transplant, Mayo Clinic, Jacksonville, FL, USA2Division of Quantitative Health Sciences, Mayo Clinic, Jacksonville, FL, USAkey clinical messageNeurofibromatosis type 1(NF-1) is an autosomal hereditary neurocutaneous syndrome marked by clinical features of neurofibromas, cafe-au-lait spots, osseous lesions, optic path glioma, axillary or inguinal freckles and lisch nodules. Malignant peripheral nerve sheath tumor (MPSNT), often associated with NF-1, is a soft tissue sarcoma originating from peripheral nerve sheath, known for its aggressive nature and low survival rates. Epitheloid sarcoma, a soft tissue sarcoma mostly occurring in extremities with potential distant and local metastasis also poses significant risk in individuals with NF-1.A 23-year-old male with NF-1 presented with right leg pain and gluteal swelling, ultimately diagnosed with epitheloid leiomyosarcoma and malignant peripheral nerve sheath tumor. Clinical examination revealed NF-1 features and a biopsy confirmed the diagnosis, leading to wide local excision and adjuvant radiotherapy. We present this case to emphasize the necessity of robust monitoring to ensure early detection and treatment intervention of this orphan malignant tumors in NF-1 patients.
