Vanderschelden Rachel, Golshani Kiarash, Evans Mark G
Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Neurological Surgery, University of California Irvine, Orange, California, USA.
Case Rep Neurol. 2022 Apr 4;14(1):191-196. doi: 10.1159/000523665. eCollection 2022 Jan-Apr.
Individuals with Down syndrome are at decreased risk of developing most types of solid tumors, including central nervous system malignancies. Several mechanisms have been proposed to explain how additional genetic material on chromosome 21 may confer this increased protection. Only two individuals with Down syndrome and meningioma have been described in the medical literature, whose tumors were both World Health Organization (WHO) grade 1. Here, we report the first individual with Down syndrome to our knowledge who developed an atypical meningioma, WHO grade 2. We also provide a hypothesis for how this tumor could have arisen in the setting of trisomy 21.
唐氏综合征患者患大多数类型实体瘤（包括中枢神经系统恶性肿瘤）的风险较低。已经提出了几种机制来解释21号染色体上额外的遗传物质如何赋予这种增强的保护作用。医学文献中仅描述了两名患有唐氏综合征和脑膜瘤的患者，他们的肿瘤均为世界卫生组织（WHO）1级。在此，据我们所知，我们报告了首例患有非典型脑膜瘤（WHO 2级）的唐氏综合征患者。我们还提出了一个关于这种肿瘤如何在21三体的情况下发生的假说。
