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一个对象研究中枢神经系统瘤在多重内分泌新生病1型

Thomas Graillon¹, Pauline Romanet^2,3, Clara Camilla³

¹Neurosurgery Departement, Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, La Timone Hospital, Marseille, France.

Clinical cancer research : an official journal of the American Association for Cancer Research

|April 17, 2024

概括

患有多发性内分泌新陈代谢1型 (MEN1) 个体患中枢神经系统 (CNS) 瘤,特别是脑膜瘤和脑膜瘤的风险更高. 这项研究量化了这种增加的发病率,并探索了MEN1患者的瘤特征.

科学领域:

神经瘤学神经瘤学
内分泌学在内分泌学.
遗传学遗传学是一个

背景情况:

多发性内分泌新陈代谢1型 (MEN1) 是一种与各种瘤风险增加相关的遗传疾病.
虽然脑下垂体瘤在MEN1中很常见,但与其他中枢神经系统 (CNS) 瘤 (如脑膜瘤和脑膜瘤) 的相关性需要进一步调查.

研究的目的:

确定中枢神经系统瘤在MEN1患者中的频率和发病率.
描述这些中枢神经系统瘤的临床和组织学特征.
研究MEN1基因失活在中枢神经系统瘤发展中的潜在作用.

主要方法:

在1990年后诊断的法国国民MEN1队列中分析中枢神经系统瘤病例.
使用法国吉隆德中枢神经系统瘤注册表计算标准化发病率 (SIR).
来自MEN1相关和零星脑膜瘤和脑膜膜瘤的体质DNA的基因组分析.

主要成果:

在1498名MEN1患者中,共发现了29种中枢神经系统瘤,与普通人群相比,其发病率明显高 (SIR=4.5).
脑膜瘤 (SIR=2.5) 和膜瘤 (SIR=17.6) 在MEN1队列中显著增加.
在大多数MEN1患者的脑膜瘤和一半的脑膜瘤中发现了MEN1基因双性失活,这表明了直接的作用.

结论:

中枢神经系统瘤,特别是脑膜瘤和脑膜瘤,在患有MEN1的患者中更常见.
这些发现支持将脑膜瘤和脑膜瘤纳入与MEN1相关的瘤的范围.
需要进一步的分子数据来确认MEN1与其他中枢神经系统瘤 (如星细胞瘤和脑瘤) 之间的联系.

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