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Folia Neuropathologica
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2/2023
vol. 61
 
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abstract:
Original paper

BCOR expression in paediatric pineoblastoma

Joanna Trubicka
1
,
Maria Łastowska
1
,
Agnieszka Karkucińska-Więckowska
1
,
Magdalena Niemira
2
,
Maria Ejmont
1
,
Agnieszka Sowińska
1
,
Maciej Pronicki
1
,
Ewa Matyja
3
,
Wiesława Grajkowska
1

  1. Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland
  2. Clinical Research Centre, Medical University of Białystok, Białystok, Poland
  3. Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
Folia Neuropathol 2023; 61 (2): 121-128
DOI: https://doi.org/10.5114/fn.2023.129377
Online publish date: 2023/07/14
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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.
keywords:

pineoblastoma, BCOR, gene expression
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