特异性甲基化分类鉴定bap1缺陷脑膜瘤，包括低分化非横纹肌样组织学的脑膜肿瘤。

IF 3.4 2区医学 Q1 CLINICAL NEUROLOGY

Neuropathology and Applied Neurobiology Pub Date : 2025-10-01 DOI:10.1111/nan.70042

Philippe Drabent, Mehdi Touat, Patrick R Benusiglio, Philipp Euskirchen, Florence Coulet, Badreddine Mohand Oumoussa, Arnaud de la Fouchardière, Vincent Thomas de Montpreville, Julian Jacob, Daniele Bernardeschi, Pierre Laurent-Puig, Marc Sanson, Michel Kalamarides, Franck Bielle

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引用次数: 0

摘要

bap1缺失型脑膜瘤优先定位于幕下或脊柱，可能表现为小细胞或上皮样细胞的未分化组织学，而不是脑膜上皮、横纹肌或乳头状变异。细胞角蛋白的频繁表达可能会误导转移性癌，但肿瘤细胞中BAP1免疫染色的缺失和特定的甲基化分类使诊断成为可能。BAP1缺陷脑膜瘤的组织分子诊断的临床影响是复发的高风险和可能潜在的BAP1肿瘤易感综合征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A Specific Methylation Class Identifies BAP1-Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology.

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A Specific Methylation Class Identifies BAP1-Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology.

BAP1-deficient meningiomas have a preferential infratentorial or spinal localization and may present with an undifferentiated histology of small or epithelioid cells rather than the meningothelial, rhabdoid or papillary variants. Frequent expression of cytokeratins may be misleading for a metastatic carcinoma but loss of BAP1 immunostaining in tumor cells and a specific methylation class enable the diagnosis. The clinical impact of the histomolecular diagnosis of BAP1-deficient meningioma is the high risk of relapse and a possible underlying BAP1 tumour predisposition syndrome.

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来源期刊

Neuropathology and Applied Neurobiology 医学-病理学

CiteScore

8.20

自引率

2.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Neuropathology and Applied Neurobiology is an international journal for the publication of original papers, both clinical and experimental, on problems and pathological processes in neuropathology and muscle disease. Established in 1974, this reputable and well respected journal is an international journal sponsored by the British Neuropathological Society, one of the world leading societies for Neuropathology, pioneering research and scientific endeavour with a global membership base. Additionally members of the British Neuropathological Society get 50% off the cost of print colour on acceptance of their article.