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.

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遗传咨询和筛查具有致病性SMARCE1变异的人的重要性：一项家庭研究

透明细胞脑膜瘤（CCM）是一种罕见的脑膜瘤变体。近年来，已发现颅和脊柱CCM与SMARCE1基因（SWI / SNF染色质重塑复合物亚基基因）功能突变的种系丧失之间的关联。我们报告了一个家庭，一个年轻的成年人，在对SMARCE1基因的种系丧失功能病原体变异（PV）进行反射筛查后，偶然遇到了一个大型脊髓透明细胞脑膜瘤。索引患者的母亲和外祖父母也都在症状前对SMARCE1进行了阳性检测。他的母亲发生了颅内和脊膜脑膜瘤，其外公的祖父在进行了明确的MRI MRI扫描（需要进行手术切除）后4年发展了脊柱CCM。在本报告中，我们特别强调在SMARCE1 PV的背景下，对被诊断患有颅内或脊柱CCM的患者的兄弟姐妹，父母和后代进行遗传咨询和筛查的重要性。我们建议至少每3年对无症状SMARCE1 PV载体进行脑和脊柱成像检查，即使基线扫描未显示任何肿瘤。