Malignant Peripheral Nerve Sheath Tumor and Epithelioid Sarcoma Associated with Von Recklinghausen Disease: A Case ReportSadiksha Khadka,1 Ganesh Giri,2Dalim Kafle,11Division of Internal Medicine, Kathmandu University School of Medical Sciences, Dhulikhel, Nepal 2Division of Internal Medicine, Harlem Hospital Center, New York, New Yorkkey 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. Epithelioid 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 epithelioid 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 emphasise the necessity of robust monitoring to ensure early detection and treatment intervention of these orphan malignant tumors in NF-1 patients.
