LAUSR

BACKGROUND Malignant peripheral nerve sheath tumor (MPNST) is a kind of rare neurogenic malignancy, which usually arises from nerve fibers in any tissue and organ that have nerve fiber distributions, especially the trunk and extremities, but it is extremely rare in spinal canal. CASE DESCRIPTION We report a 30-year-old woman who had a history of excision of intraspinal occupying lesions 5 times and the pathologic diagnosis based on histomorphologic and immunohistochemistry was schwannomatosis, which existed in her family history. Unfortunately, she died because her condition deteriorated rapidly and appeared multiple lung metastases. MPNST was confirmed by needle biopsy of lung lesions. CONCLUSIONS Many cases of MPNST usually developed from neurofibromatosis type 1. However, the incidence of MPNST arising from schwannomatosis was extremely rare. More significantly, using genetic testing on her, we found a splice site mutation (c.1118+1G>A) that occurred between exons 8 and 9 of the SMARCB1 gene, which was first found in this MPNST patient and could lay the foundation for further study of its pathogenesis.