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

特定的甲基化类型可识别BAP1缺陷型脑膜瘤,包括分化不良的非横纹肌样组织学类型的脑膜肿瘤

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Abstract

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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