SEGA-like circumscribed astrocytoma in a non-NF1 patient, harboring molecular profile of GBM. A case report.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-02 DOI:10.1111/neup.12948
Seiji Yamada, Motoki Tanikawa, Yuko Matsushita, Ryota Fujinami, Hiroshi Yamada, Kaishi Sakomi, Tomohiro Sakata, Hidehito Inagaki, Hideaki Yokoo, Koichi Ichimura, Mitsuhito Mase
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引用次数: 0

Abstract

Subependymal giant cell astrocytoma (SEGA) is a low-grade periventricular tumor that is closely associated with tuberous sclerosis complex (TSC). SEGA typically arises during the first two decades of life and rarely arises after the age of 20-25 years. Nevertheless, it has also been reported that glioma histologically resembling SEGA, so-called SEGA-like astrocytoma, can arise in neurofibromatosis type 1 (NF1) patients, even in the elderly. Herein, we report a case of SEGA-like circumscribed astrocytoma arising in the lateral ventricle of a 75-year-old woman. Whole-exome sequencing revealed a somatic variant of NF1. Methylation array analysis led to a diagnosis of "methylation class glioblastoma, IDH-wildtype, mesenchymal-type (GBM, MES)" with a high calibrated score (0.99). EGFR amplification, CDKN2A/B homozygous deletion, chromosomal +7/-10 alterations, and TERT promoter mutation, typical molecular abnormalities usually found in GBM, were also observed. While most reported cases of SEGA-like astrocytoma have arisen in NF1 patients, the patient was neither TSC nor NF1. Near total removal was accomplished with endoscopic cylinder surgery. At the 36-month follow-up, there was no tumor recurrence without adjuvant therapies. This clinical behavior did not match GBM. SEGA-like astrocytoma of the elderly is rare, and this is the oldest case reported so far. In addition, high-grade molecular features found in circumscribed tumor remain unclear. Further investigations among larger series are needed for clarifying the underlying molecular mechanisms.

非NF1患者的SEGA样局限性星形细胞瘤,具有GBM的分子特征。病例报告。
室管膜下巨细胞星形细胞瘤(SEGA)是一种与结节性硬化综合征(TSC)密切相关的低级别室周肿瘤。SEGA通常发生在生命的前二十年,很少发生在20-25岁之后 年。然而,也有报道称,在组织学上类似SEGA的神经胶质瘤,即所谓的SEGA样星形细胞瘤,可能出现在1型神经纤维瘤病(NF1)患者中,甚至在老年人中。在此,我们报告了一例发生在一名75岁女性侧脑室的SEGA样局限性星形细胞瘤。全外显子组测序揭示了NF1的体细胞变体。甲基化阵列分析诊断为“甲基化类胶质母细胞瘤,IDH野生型,间充质型(GBM,MES)”,评分高(0.99)。还观察到EGFR扩增、CDKN2A/B纯合缺失、染色体+7/-10改变和TERT启动子突变,这是GBM中常见的典型分子异常。虽然大多数报告的SEGA样星形细胞瘤病例发生在NF1患者中,但该患者既不是TSC也不是NF1。内窥镜圆柱体手术几乎完全切除。在36个月的随访中,在没有辅助治疗的情况下没有肿瘤复发。这种临床行为与GBM不匹配。老年人的SEGA样星形细胞瘤是罕见的,这是迄今为止报道的最古老的病例。此外,在局限性肿瘤中发现的高级分子特征尚不清楚。需要在更大的系列中进行进一步的研究,以阐明潜在的分子机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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