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一例无结节性硬化症的室管膜下巨细胞星形细胞瘤病例及文献复习

A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature.

作者信息

O'Rawe Michael, Chandran Arjun S, Joshi Stuti, Simonin Alexandre, Dyke Jason M, Lee Sharon

机构信息

Department of Neurosurgery, Neurosurgical Service of Western Australia, Sir Charles Gairdner Hospital, 1st Floor, G Block, Nedlands, Perth, WA, 6009, Australia.

Department of Neurosurgery, Perth Children's Hospital, Perth, WA, Australia.

出版信息

Childs Nerv Syst. 2021 Apr;37(4):1381-1385. doi: 10.1007/s00381-020-04823-z. Epub 2020 Aug 17.

DOI:10.1007/s00381-020-04823-z
PMID:32808065
Abstract

Subependymal giant cell astrocytoma (SEGA) is a World Health Organization (WHO) grade I tumor most commonly seen in the context of the underlying tuberous sclerosis complex (TSC). SEGA in the absence of TSC is exceedingly rare. We report the youngest known case of SEGA in the absence of genetic or phenotypic evidence of TSC with a 10-year follow-up. We discuss the literature surrounding isolated SEGA including an approach to diagnosis, management, and prognosis.

摘要

室管膜下巨细胞星形细胞瘤(SEGA)是世界卫生组织(WHO)I级肿瘤,最常见于潜在的结节性硬化症(TSC)背景下。无TSC的SEGA极为罕见。我们报告了已知最年轻的无TSC基因或表型证据的SEGA病例,并进行了10年随访。我们讨论了有关孤立性SEGA的文献,包括诊断、管理和预后方法。

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本文引用的文献

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TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review.结节性硬化症中TSC1和TSC2基因突变及其治疗意义:综述
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Genetics of tuberous sclerosis complex: implications for clinical practice.结节性硬化症复合体的遗传学:对临床实践的影响。
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Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: Case report.
非结节性硬化症青少年孤立性 SEGA 出血:病例分析及文献复习。
Childs Nerv Syst. 2024 Jul;40(7):2199-2207. doi: 10.1007/s00381-024-06382-z. Epub 2024 Apr 5.
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Isolated subependymal giant cell astrocytoma (SEGA) in the absence of clinical tuberous sclerosis: two case reports and literature review.无临床结节性硬化症情况下的孤立性室管膜下巨细胞星形细胞瘤(SEGA):两例报告及文献综述
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Subependymal giant cell astrocytoma in the absence of tuberous sclerosis: illustrative case.无结节性硬化症的室管膜下巨细胞星形细胞瘤:病例说明
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