Journal Article DKFZ-2025-02009

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

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2025
Wiley-Blackwell Oxford [u.a.]

Neuropathology & applied neurobiology 51(5), e70042 () [10.1111/nan.70042]
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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.

Keyword(s): Humans (MeSH) ; Meningioma: pathology (MeSH) ; Meningioma: genetics (MeSH) ; Meningioma: diagnosis (MeSH) ; Meningioma: metabolism (MeSH) ; Ubiquitin Thiolesterase: deficiency (MeSH) ; Ubiquitin Thiolesterase: genetics (MeSH) ; Meningeal Neoplasms: pathology (MeSH) ; Meningeal Neoplasms: genetics (MeSH) ; Meningeal Neoplasms: diagnosis (MeSH) ; Meningeal Neoplasms: metabolism (MeSH) ; Tumor Suppressor Proteins: deficiency (MeSH) ; Tumor Suppressor Proteins: genetics (MeSH) ; DNA Methylation (MeSH) ; Female (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Adult (MeSH) ; BAP1 ; homologous repair deficiency ; infratentorial ; meningeal tumour ; meningioma ; methylome ; papillary ; rhabdoid ; spine ; tumour predisposition syndrome ; BAP1 protein, human ; Ubiquitin Thiolesterase ; Tumor Suppressor Proteins

Classification:

Contributing Institute(s):
  1. DKTK Koordinierungsstelle Berlin (BE01)
Research Program(s):
  1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2025
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 Record created 2025-10-01, last modified 2025-10-05


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