World neurosurgery · 2018
Malignant Peripheral Nerve Sheath Tumor Arising in Schwannomatosis with Multiple Lung Metastases.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Ding Yuhui, Rong Hongtao, Liu Tong, Wang Yi, Zhang Jinhao, Li Sipeng, Zhu Tao
Аннотация
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.
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.