BCOR expression in paediatric pineoblastoma

BCOR is expressed in a new brain tumour entity, i.e. ‘CNS tumour with BCOR internal tandem duplication’ (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Never...

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Bibliographic Details
Published inFolia neuropathologica Vol. 61; no. 2; pp. 121 - 128
Main Authors Trubicka, Joanna, Łastowska, Maria, Karkucińska-Więckowska, Agnieszka, Niemira, Magdalena, Ejmont, Maria, Sowińska, Agnieszka, Pronicki, Maciej, Matyja, Ewa, Grajkowska, Wiesława
Format Journal Article
LanguageEnglish
Published Warsaw Termedia sp. z o.o 01.01.2023
Termedia Publishing House
Subjects
bcor
Brain cancer
Brain tumors
Central nervous system
Fusion protein
gene expression
Neoplasia
Pediatrics
Pineal gland
pineoblastoma
Tumors
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Summary:BCOR is expressed in a new brain tumour entity, i.e. ‘CNS tumour with BCOR internal tandem duplication’ (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and germinoma, to assess a potential involvement of BCOR in these tumours. Levels of BCOR RNA expression were investigated by NanoString nCounter system analysis in a series of altogether 66 high grade paediatric tumours, including four pineoblastoma cases. Immunohistological detection of BCOR was performed in eight pineoblastoma, five germinoma and four atypical teratoid rhabdoid tumours (ATRTs), all located in the pineal region. We detected BCOR expression in all pineoblastomas, at the RNA and protein levels, but not in germinomas and ATRTs. Further analysis of pineoblastoma samples did not reveal the presence of either BCOR internal tandem duplication or BCOR fusion involvement. Positive immunohistological BCOR nuclear reaction in pineoblastoma may therefore differentiate this type of tumour from other high grade tumours located in the pineal region.
ISSN:1641-4640
1509-572X
DOI:10.5114/fn.2023.129377