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Updated: Jun 22 2021

Malignant Peripheral Nerve Sheath Tumor

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  • summary
    • Malignant Peripheral Nerve Sheath Tumors, also known as neurofibrosarcoma or malignant schwannoma, are malignant tumors that may occur as solitary lesions or be associated with neurofibromatosis. 
    • The condition usually presents in patients between 20 and 50 years old with soft-tissue masses associated with a peripheral nerve or prior neurofibroma.
    • Diagnosis is made with a biopsy showing spindle cells with wavy nuclei resembling fibrosarcoma. Immunostaining is positive for S100.
    • Treatment is usually wide surgical resection and radiation.
  • Epidemiology
    • Demographics
      • 30 to 55 years for solitary neurofibromas
      • 20 to 40 years for neurofibromatosis type 1 (NF-1)
  • Etiology
    • Genetics
      • most cases associated with NF-1
        • 4% incidence in these patients
  • Presentation
    • Presentation
      • soft-tissue mass
      • most arise from large nerves (sciatic, brachial plexus)
      • motor and sensory deficit of the affected nerve
  • Imaging
    • Radiograph
      • usually normal or non-specific soft-tissue mass
    • MRI
      • low-intensity on T1-weighted images
      • high intensity on T2-weighted images
      • serial MRI may show enlargement of previous benign nerve sheath lesion suggesting malignant transformation
    • Bone scan
      • mildly positive
  • Studies
    • Histology
      • classic characteristics are
        • spindle cells with wavy nuclei resembling fibrosarcoma
      • Immunohistochemistry
        • positive S100 stain
        • keratin staining is negative
  • Treatment
    • Operative
      • wide surgical resection + radiation
        • indications
          • standard of care in most patients
          • in general, treated as high-grade sarcoma
        • technique
          • wide resection should include entire affected nerve
        • radiation
          • perform preoperative neo-adjuvant radiation
        • chemotherapy not useful
  • Prognosis
    • Survival for solitary lesion is 75% (5-year survival)
    • Survival associated with NF-1 is 30% (5-year survival)
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