具有胚系突变的Ⅱ型多发性神经纤维瘤病(NF2)患者对脑膜瘤发生的易感性更强,高达60%的散发性脑膜瘤中可发现NF2体细胞突变。SMARCE1为Sonic Hedgehog-Gli的一种通路蛋白,作者新近发现SMARCE1突变为透明细胞型脑膜瘤中的病因之一。为探讨SMARCE1基因是否与脑膜瘤发生部位及组织病理学亚型相关,作者选取非NF2突变的5例脊髓脑膜瘤和6例颅骨脑膜瘤进行研究。首先采用Sanger测序法筛选出SMARCE1基因突变者,并对未发生 Patients with germline mutation type II multiple neurofibromatosis (NF2) are more susceptible to meningioma development and mutations of NF2 soma may be found in up to 60% of sporadic meningiomas. SMARCE1 is a pathway protein of Sonic Hedgehog-Gli. The authors recently discovered that SMARCE1 mutation is one of the causes of clear cell type meningioma. To explore whether the SMARCE1 gene is associated with the location of meningiomas and histopathological subtypes, we selected 5 cases of non-NF2 mutations in the spinal cord meningiomas and 6 cases of skull meningiomas. Sanger sequencing was first used to screen for mutations in SMARCE1 gene and did not occur