Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions

Wu, Zhichao; Rajan, Sharika; Chung, Hye-Jung; Selvam, Pavalan; Schweizer, Leonille; Perry, Arie; Samuel, David; Giannini, Caterina; Ragunathan, Aditya; Frosch, Matthew P.; Marshall, M. Scott; Boué, Daniel R.; Donev, Kliment; Neill, Stewart G.; Fernandes, Igor A.; Resnick, Adam; Rood, Brian R.; Cummings, Thomas J.; Buckley, Anne F.; Szymanski, Linda J.; Neto, Osorio Lopes Abath; Zach, Leor; Colman, Howard; Cheshier, Samuel; Ziskin, Jennifer; Tyagi, Manoj; Capper, David; Abdullaev, Zied; Cimino, Patrick J.; Quezado, Martha; Pratt, Drew; Aldape, Kenneth

doi:10.1007/s00401-022-02508-2

Cited by 9 publications

(18 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To compare these cases to published data we performed an extensive review of existing literature. Based on our literature review, the median age of patients reported to suffer from CNS tumors EP300::BCOR- fused was 30 years-old (varying from 5 to 72 years old, with 70% of cases being adults) [ 5 , 17 , 19 ]. In summary, this is different from reported BCOR ITD cases where 94% are pediatric with a median age of 4 years-old at diagnosis, with extremes varying from 0 to 36 [ 2 – 15 ].…”

Section: Discussionmentioning

confidence: 99%

“…In summary, this is different from reported BCOR ITD cases where 94% are pediatric with a median age of 4 years-old at diagnosis, with extremes varying from 0 to 36 [ 2 – 15 ]. Particularly, three cases with CNS tumors EP300::BCOR- fused were older than 60 years of age [ 5 , 17 , 19 ]. In reported cases with EP300::BCOR fusion, patients were predominantly male whereas no sex predominance was observed in cases with ITD (sex ratio male/female: 1.55 vs .…”

Section: Discussionmentioning

confidence: 99%

“…In reported cases with EP300::BCOR fusion, patients were predominantly male whereas no sex predominance was observed in cases with ITD (sex ratio male/female: 1.55 vs . 1.0) [ 2 – 15 , 17 , 19 ]. As previously reported [ 17 ], CNS tumors with EP300::BCOR fusion are more frequently reported in the supratentorial region (83%, 15/18) than cases with BCOR ITD (56%, 42/75) [ 2 – 15 , 17 , 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…The current version of the World Health Organization’s (WHO) Classification of Tumors of the Central Nervous System (CNS) identified a novel embryonal histomolecular type, the “CNS tumor with BCOR internal tandem duplication”[ 1 ]. These tumors, characterized by a recurrent internal tandem duplication (ITD) of the BCOR ( BCL6 Corepressor ) gene [ 2 – 17 ], are almost exclusively found in young children and remain a diagnostic and therapeutic challenge [ 18 ]. Recently, cases of CNS tumors harboring EP300::BCOR(L1) fusions (21 reported cases) were described, sharing histopathological features with CNS tumors having BCOR ITD, but not the same methylation class [ 5 , 17 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

“…These tumors, characterized by a recurrent internal tandem duplication (ITD) of the BCOR ( BCL6 Corepressor ) gene [ 2 – 17 ], are almost exclusively found in young children and remain a diagnostic and therapeutic challenge [ 18 ]. Recently, cases of CNS tumors harboring EP300::BCOR(L1) fusions (21 reported cases) were described, sharing histopathological features with CNS tumors having BCOR ITD, but not the same methylation class [ 5 , 17 , 19 ]. However, very little data concerning clinical presentation, radiology and detailed histopathology are available in the literature.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

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

Tauziède‐Espariat

Uro‐Coste²,

Sievers³

et al. 2023

acta neuropathol commun

View full text Add to dashboard Cite

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.

show abstract