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无结节性硬化症的室管膜下巨细胞星形细胞瘤：一例罕见病症的病例报告

Subependymal Giant Cell Astrocytomas Without Tuberous Sclerosis: A Case Report on a Rare Medical Condition.

作者信息

Nibe Pranjali, Bavikar Rupali, Gore Charusheela, Bhuibhar Gayatri

机构信息

Department of Pathology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.

出版信息

Cureus. 2024 Jul 11;16(7):e64313. doi: 10.7759/cureus.64313. eCollection 2024 Jul.

DOI:10.7759/cureus.64313
PMID:39130912
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11316845/
Abstract

Subependymal giant cell astrocytomas (SEGAs) are benign, slow-growing, noninvasive tumors frequently associated with the tuberous sclerosis complex (TSC). The tumor's location and the patient's age should be considered carefully before diagnosis. Considering SEGA as a differential diagnosis, even in adult patients without TSC, is essential. In the present case, a 22-year-old male presented with a progressive headache, dizziness, and blurring of vision. Radiological investigations confirmed the site of the tumor, and a positive expression of thyroid transcription factor 1 in the ganglion cell component, along with the absence of germline mutation in TSC1 and TSC2, led to the final diagnosis of SEGA without TSC.

摘要

室管膜下巨细胞星形细胞瘤（SEGA）是一种良性、生长缓慢、非侵袭性肿瘤，常与结节性硬化症（TSC）相关。在诊断前应仔细考虑肿瘤的位置和患者的年龄。即使在没有TSC的成年患者中，将SEGA作为鉴别诊断也是至关重要的。在本病例中，一名22岁男性出现进行性头痛、头晕和视力模糊。影像学检查确定了肿瘤的位置，神经节细胞成分中甲状腺转录因子1的阳性表达，以及TSC1和TSC2中无胚系突变，最终诊断为无TSC的SEGA。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0987/11316845/c7b05712ea9a/cureus-0016-00000064313-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0987/11316845/dd0402227e13/cureus-0016-00000064313-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0987/11316845/5c11d48c6c28/cureus-0016-00000064313-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0987/11316845/c7b05712ea9a/cureus-0016-00000064313-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0987/11316845/dd0402227e13/cureus-0016-00000064313-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0987/11316845/5c11d48c6c28/cureus-0016-00000064313-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0987/11316845/c7b05712ea9a/cureus-0016-00000064313-i03.jpg

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本文引用的文献

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Nervous system (NS) Tumors in Cancer Predisposition Syndromes.神经系统肿瘤与癌症易感综合征。
Neurotherapeutics. 2022 Oct;19(6):1752-1771. doi: 10.1007/s13311-022-01277-w. Epub 2022 Sep 2.
2
TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA.TTF-1：作为室管膜下巨细胞星形细胞瘤诊断标志物，是免疫组化工具库中一项不错的补充。
World Neurosurg. 2022 Mar;159:e62-e69. doi: 10.1016/j.wneu.2021.11.125. Epub 2021 Dec 3.
3
The 2021 WHO Classification of Tumors of the Central Nervous System: a summary.
2021 年世卫组织中枢神经系统肿瘤分类：概述。
Neuro Oncol. 2021 Aug 2;23(8):1231-1251. doi: 10.1093/neuonc/noab106.
4
Trends in survival and treatment of SEGA: National Cancer Database Analysis.室管膜下巨细胞星形细胞瘤的生存及治疗趋势：国家癌症数据库分析
Neurooncol Pract. 2020 Sep 28;8(1):98-105. doi: 10.1093/nop/npaa060. eCollection 2021 Feb.
5
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.使用下一代测序技术在三例孤立性室管膜下巨细胞星形细胞瘤中鉴定出仅限于肿瘤的TSC1或TSC2突变。
Childs Nerv Syst. 2020 May;36(5):961-965. doi: 10.1007/s00381-020-04551-4. Epub 2020 Feb 26.
6
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.结节性硬化症相关室管膜下巨细胞星形细胞瘤的临床特征
Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019.
7
Subependymal giant cell astrocytoma (SEGA): a case report and review of the literature.室管膜下巨细胞星形细胞瘤（SEGA）：一例病例报告及文献综述
J Med Case Rep. 2016 Feb 9;10:35. doi: 10.1186/s13256-016-0818-6.