Consultant Neurosurgeon, Department of Neurosurgery, Barking Havering and Redbridge University Hospitals NHS Trust, UK.
Consultant neurosurgeon, Department of neurosurgery, Salford Royal Hospital, Manchester, UK.
Am J Med Genet A. 2021 Feb;185(2):561-565. doi: 10.1002/ajmg.a.61970. Epub 2020 Nov 13.
Clear cell meningioma (CCM) is a rare variant of meningioma. In recent years, an association between cranial and spinal CCMs and germline loss of function mutations in the SMARCE1 gene (SWI/SNF chromatin remodeling complex subunit gene) has been discovered. We report a family with an incidental large spinal clear cell meningioma in a young adult following reflex screening for a germline loss of function pathogenic variant (PV) in the SMARCE1 gene. The index patient's mother and maternal grandfather were both also tested positive presymptomatically for SMARCE1. His mother developed intracranial and spinal meningiomas and his maternal grandfather developed a spinal CCM 4 years following a clear spinal MRI scan which required surgical excision. In this report we particularly emphasize the importance of genetic counseling and screening in siblings, parents and offspring of patients who are diagnosed with intracranial or spinal CCM in the context of SMARCE1 PVs. We recommend brain and spine Imaging screening of asymptomatic SMARCE1 PV carriers at least every 3 years, even if the baseline scan did not show any tumors.
透明细胞脑膜瘤（CCM）是脑膜瘤的一种罕见变体。近年来，颅脊 CCM 与胚系 SMARCE1 基因（SWI/SNF 染色质重塑复合物亚基基因）功能丧失突变之间的关联已被发现。我们报告了一个家族，一名年轻的成年患者在反射性筛查 SMARCE1 基因胚系功能丧失致病性变异（PV）时偶然发现了一个大的脊髓透明细胞脑膜瘤。该患者的母亲和外祖父在出现症状前均检测到 SMARCE1 呈阳性。他的母亲后来同时发展出颅内和脊髓脑膜瘤，而他的外祖父在脊髓 MRI 扫描显示正常 4 年后发展出脊髓 CCM，需要手术切除。在本报告中，我们特别强调了在患者被诊断为颅内或脊髓 CCM 时，对兄弟姐妹、父母和子女进行遗传咨询和筛查的重要性，这些患者的 SMARCE1 存在 PV。我们建议对无症状的 SMARCE1 PV 携带者进行脑和脊柱成像筛查，至少每 3 年一次，即使基线扫描未显示任何肿瘤。
