[脑膜瘤的病理诊断和遗传变异]。

Q4 Medicine Neurological Surgery Pub Date : 2024-07-01 DOI:10.11477/mf.1436204967
Sayaka Yuzawa
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引用次数: 0

摘要

脑膜瘤以其组织学多样性而闻名,是最常见的脑肿瘤之一。一些脑膜瘤表现出不寻常的组织形态,特别是在术中快速诊断时。因此,临床和放射学信息对于病理诊断至关重要。在 2021 年世界卫生组织发布《中枢神经系统肿瘤分类》(第五版)之前,病理诊断仅依赖于组织病理学特征。然而,该分类引入了无弹性脑膜瘤的新诊断标准,其中包括TERT启动子突变和CDKN2A/B的同源缺失,表明基因分析的必要性。一些横纹肌瘤和乳头状脑膜瘤有 BAP1 改变,临床表现为侵袭性,可能代表 BAP1 相关肿瘤易感综合征的表型。CDKN2A/B 杂合子缺失和 H3 p.K28me3(K27me3) 缺失也与预后不良有关。虽然一些免疫组化标记(如 MTAP)可作为 CKKN2A/B 基因同源缺失的替代指标,但要确认 TERT 启动子突变,还需要进行基因分析。因此,在常规临床实践中,神经外科医生和病理学家会优先考虑适当的福尔马林固定,以方便利用病理标本进行基因分析。
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[Pathological Diagnosis and Genetic Alterations of Meningioma].

Meningiomas, renowned for their histological diversity, are one of the most prevalent brain tumors. Some meningiomas show unusual histomorphology, especially in intraoperative rapid diagnosis. Therefore, clinical and radiological information is crucial for pathological diagnosis. Before the 2021 World Health Organization Classification of Tumors of the Central Nervous System(5th edition), pathological diagnosis relied solely on histopathological features. However, this classification introduced new diagnostic criteria for anaplastic meningiomas, which now include TERT promoter mutations and the homozygous deletion of CDKN2A/B, indicating the necessity of genetic analysis. Some rhabdoid and papillary meningiomas have BAP1 alterations, which tend to demonstrate an aggressive clinical course and may represent a phenotype of BAP1-related tumor predisposition syndrome. Heterozygous deletion of CDKN2A/B and loss of H3 p.K28me3(K27me3)are also associated with poor prognosis. Although some immunohistochemical markers like MTAP may serve as surrogates for the homozygous deletion of CKKN2A/B, genetic analysis is required to confirm TERT promoter mutations. Therefore, in routine clinical practice, neurosurgeons and pathologists prioritize appropriate formalin fixation to facilitate genetic analysis using pathological specimens.

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来源期刊
Neurological Surgery
Neurological Surgery Medicine-Medicine (all)
自引率
0.00%
发文量
99
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