METHODS: 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.
方法:我们报告了一名30岁的女性,她有5次脊柱内占位性病变切除史,根据组织形态学和免疫组织化学的病理诊断为神经鞘瘤病,存在于她的家族史中.不幸的是,她因病情迅速恶化并出现多发肺转移而死亡。MPNST经肺部病变穿刺活检证实。
结论:许多MPNST病例通常由1型神经纤维瘤病发展而来。然而,神经鞘瘤病引起的MPNST的发生率极为罕见.更重要的是,对她进行基因检测,我们发现在SMARCB1基因的外显子8和9之间发生剪接位点突变(c.1118+1G>A),在该MPNST患者中首次发现,为进一步研究其发病机制奠定了基础。