Ledford W Luke, Carr Christopher J, Alfaro Milca G, Conger Charlaine, Sharma Suash J, Henson John W, Nguyen Khoi D
Department of Neurosurgery, Medical College of Georgia at Augusta University, Augusta, Georgia.
TSC Alliance Clinic-Georgia Cancer Center, Medical College of Georgia at Augusta University, Augusta, Georgia.
J Neurosurg Case Lessons. 2025 Jul 7;10(1). doi: 10.3171/CASE2566.
The authors present a rare case of subependymal giant cell astrocytoma (SEGA) in a patient without tuberous sclerosis complex (TSC) and report characteristics of similar cases in the literature via a systematic review.
A healthy 16-year-old male presented with headache and papilledema and was found to have an intraventricular mass. The mass was resected, and pathological analysis revealed SEGA. The patient developed recurrence with hydrocephalus necessitating open resection followed by CSF diversion. Next-generation sequencing was performed on the tumor, which revealed a homozygous TSC2 mutation. Targeted mosaic variant testing was negative in peripheral blood, indicating an acquired, rather than inherited, mutation. This likely represents a single mutation that underwent gene conversion during early astrocyte division. The authors performed a systematic review of the literature and found 59 additional documented cases of SEGA without TSC. Compared with TSC-associated SEGAs, isolated SEGAs tend to occur in older children, have lower rates of gross-total resection and higher rates of recurrence, and are always solitary lesions.
Patients without TSC may develop SEGA due to somatic mutations. Thus, SEGA should remain on the differential diagnosis for intraventricular masses. Resection and histopathological diagnosis are usually indicated, especially for those complicated by hydrocephalus. Prognosis is favorable for isolated SEGA. https://thejns.org/doi/10.3171/CASE2566.
作者报告了一例罕见的无结节性硬化症（TSC）患者发生室管膜下巨细胞星形细胞瘤（SEGA）的病例，并通过系统回顾报道了文献中类似病例的特征。
一名16岁健康男性因头痛和视乳头水肿就诊，发现有脑室内肿块。该肿块被切除，病理分析显示为SEGA。患者复发并伴有脑积水，需要进行开放性切除，随后进行脑脊液分流。对肿瘤进行了二代测序，结果显示TSC2基因纯合突变。外周血靶向镶嵌变异检测为阴性，表明该突变为获得性而非遗传性突变。这可能代表了在早期星形胶质细胞分裂过程中发生基因转换的单个突变。作者对文献进行了系统回顾，发现另外59例有记录的无TSC的SEGA病例。与TSC相关的SEGA相比，孤立性SEGA往往发生在年龄较大的儿童中，全切除率较低，复发率较高，并且总是孤立性病变。
无TSC的患者可能由于体细胞突变而发生SEGA。因此，SEGA应始终作为脑室内肿块的鉴别诊断之一。通常需要进行切除和组织病理学诊断，特别是对于那些并发脑积水的患者。孤立性SEGA的预后良好。https://thejns.org/doi/10.3171/CASE2566
