带有体质TSC2突变的零星亚垂体巨细胞星瘤:一个病例报告
Ali H Alassiri1, Turki M Alfayea1, Tariq I Aljared1
1From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia.
亚独立性巨细胞星瘤 (SEGA) 是一种罕见的脑瘤. 这一案例突出显示了一种非典型的SEGA呈现与TSC2突变,通过手术和everolimus管理,显示瘤减少.
科学领域:
- 神经瘤学神经瘤学
- 遗传学 是一个遗传学.
- 儿科神经学 儿科神经学
背景情况:
- 下垂体巨细胞星瘤 (SEGA) 是一种罕见的质瘤,通常与结核性硬化综合体 (TSC) 相关.
- 了解SEGA的遗传基础和非典型表现对于有效管理至关重要.
- 这项研究侧重于一个独特的SEGA病例,其中TSC2突变呈异常.
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