Neurofibromatosis to neoplasia transition: a rare case report of spindle cell malignant peripheral nerve sheath tumor with literature review

Abstract

Introduction and importance: Malignant peripheral nerve sheath tumor (MPNST) is a rare and aggressive soft tissue malignant tumor. MPNST in the spinal canal is rarely seen except in cases of neurofibromatosis type 1. However, a long-segment extradural spinal malignant spindle cell neoplasm has not been reported in the current literature. Case presentation: We present the first reported case of spinal malignant spindle cell neoplasm extended along the spine. The detected lesion is responsible for compressing various segments of the spinal cord, causing thinning of the cord and secondary stenosis of the spinal canal, leading to a condition known as multisegment compression myelopathy. Clinical discussion: MPNSTs are typically detected late due to nonspecific symptoms, with a higher incidence in extremities and a notable occurrence in unusual locations. Diagnosis relies on MRI and histopathology, with S_100 positivity as a neural marker. MPNSTs can arise from neurofibromas or Schwann cells, with a significant portion resulting from TP53 mutations or secondary to radiation exposure. Conclusion: This case stands out due to its unique presentation, characterized by a predominantly spindle cell morphology with certain epithelioid features. It is imperative to recognize this condition for an accurate diagnosis, emphasizing the spindle cell-type MPNST and highlighting its exceptionally poor prognosis.