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Review
. 2023 Feb 13;11(1):26.
doi: 10.1186/s40478-023-01523-y.

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Arnault Tauziède-Espariat  1   2   3 , Emmanuelle Uro-Coste  4   5   6 , Philipp Sievers  7   8 , Yvan Nicaise  4   5   6 , Cassandra Mariet  9   10 , Aurore Siegfried  4   5   6 , Gaëlle Pierron  11   12 , Delphine Guillemot  11 , Joseph Benzakoun  13   14 , Johan Pallud  13   10   15 , Margaux Roques  16 , Fabrice Bonneville  16 , Delphine Larrieu-Ciron  17   18 , Patrick Chaynes  19 , Raphaël Saffroy  20 , Jocelyne Hamelin  20 , Lauren Hasty  9 , Alice Métais  9   13   10 , Fabrice Chrétien  9   10 , Marcel Kool  21   22   23 , Johannes Gojo  24 , Pascale Varlet  9   13   10 ; RENOCLIP-LOC
Affiliations
Review

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Arnault Tauziède-Espariat et al. Acta Neuropathol Commun. .

Abstract

The Central Nervous System (CNS) tumor with BCOR internal tandem duplication (ITD) has recently been added as a novel embryonal histomolecular tumor type to the 2021 World Health Organization (WHO) Classification of CNS Tumors. In addition, other CNS tumors harboring a BCOR/BCORL1 fusion, which are defined by a distinct DNA-methylation profile, have been recently identified in the literature but clinical, radiological and histopathological data remain scarce. Herein, we present two adult cases of CNS tumors with EP300::BCOR fusion. These two cases presented radiological, histopathological, and immunohistochemical homologies with CNS tumors having BCOR ITD in children. To compare these tumors with different BCOR alterations, we performed a literature review with a meta-analysis. CNS tumors with EP300::BCOR fusion seem to be distinct from their BCOR ITD counterparts in terms of age, location, progression-free survival, tumor growth pattern, and immunopositivity for the BCOR protein. CNS tumors from the EP300::BCOR fusion methylation class in adults may be added to the future WHO classification.

Keywords: Adult; BCOR; EP300.

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Conflict of interest statement

The authors declare that they have no conflicts of interest directly related to the topic of this article.

Figures

Fig. 1
Fig. 1
Radiological features of Case #1 tumor. a Axial T2-weighted MRI sequence showing a well-delineated left frontal hyperintense lesion (arrow). b Axial diffusion-weighted sequence demonstrating hyperintensity corresponding to hypercellularity of the solid component c Axial susceptibility-weighted sequence showing hypointensity consistent with hemorrhage within the tumor (arrow). d Axial CT showing calcifications (arrow) and acute hemorrhage (star) e Axial perfusion sequence with Cerebral Blood Volume Map showing moderate hyperperfusion of the solid component (arrow). Sagittal T1-weighted f before and g after contrast injection demonstrate juxta-ventricular location of the mass lesion (arrowheads) and a subtle area of enhancement (arrow) h MRI follow-up at two years with post-contrast sagittal T1-weighted sequence showing tumor progression and increase of enhanced components. i Axial FLAIR sequence performed one year after surgery showed an intraventricular ependymal dissemination (arrowheads). j Ependymal differentiation with calcifications (HPS, magnification 400 ×). k Microcysts containing myxoid substance (HPS, magnification 400 ×). l Necrosis (HPS, magnification 400 ×). m Olig2 immunoreactivity (magnification 400 ×). n No immunoexpression for GFAP (magnification 400 ×). o MIB1 labeling index (magnification 400 ×). p No immunopositivity for BCOR (magnification 400 ×). q Expression of SATB2 (magnification 400 ×) Black scale bars represent µm. HPS Hematoxylin Phloxin Saffron.
Fig. 2
Fig. 2
Radiological features of Case #2 tumor. a Coronal T2-weighted MRI sequence showing a well-delineated tumor developed inside the right ventricle. b Axial diffusion-weighted sequence showing hyperintensity consistent with hypercellularity of the solid component (arrow) c MR Perfusion with Cerebral Blood Volume Map showing hyperperfusion of the tumor (arrow). d Axial T1-weighted injection showing a spontaneous hyperintense intra-ventricular haemorrhage (arrowhead); e strong enhancement of the solid component is present after contrast injection (arrow) f MR Spectroscopy demonstrated elevated Choline (Cho), decreased NAA and elevation of lipids-lactates complex (Lac). g Ependymal differentiation (HPS, magnification 400 ×). h Microcysts containing myxoid substance (HPS, magnification 400 ×). i Spindle cell component (HPS, magnification 400 ×). (J) Olig2 immunoexpression by tumor cells (magnification 400 ×). k No immunopositivity for GFAP (magnification 400 ×). l MIB1 labeling index (magnification 400 ×). m No immunopositivity for BCOR (magnification 400 ×). Black scale bars represent µm. HPS Hematoxylin Phloxin Saffron
Fig. 3
Fig. 3
Methylation-based t-SNE distribution. Reference DNA methylation classes (v12.5 of the DKFZ classifier): AB_MN1: Astroblastoma, MN1-altered, MN1:BEND2-fused; BCOR / BCORL1: CNS tumor with BCOR/BCORL1 fusion; BCOR_ITD: CNS tumor with BCOR internal tandem duplication; CNS EWS_CIC: CIC-rearranged sarcoma; CNS NB, FOXR2: central nervous system neuroblastoma, FOXR2-activated; GBM_MES: Glioblastoma, IDH-wildtype, mesenchymal subtype; GBM_RTK1: Glioblastoma, IDH-wildtype, RTK1 subtype; GBM_RTK2: Glioblastoma, IDH-wildtype, RTK2 subtype; NB: neuroblastoma; NET_PATZ: Neuroepithelial tumor with PATZ1 fusion
See this image and copyright information in PMC

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