期刊
ACTA NEUROPATHOLOGICA COMMUNICATIONS
卷 11, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s40478-023-01523-y
关键词
EP300; BCOR; Adult
The Central Nervous System (CNS) tumor with BCOR internal tandem duplication (ITD) has been recognized as a novel embryonal histomolecular tumor type in the 2021 World Health Organization (WHO) Classification of CNS Tumors. Meanwhile, CNS tumors harboring a BCOR/BCORL1 fusion, characterized by a distinct DNA-methylation profile, have also been identified in recent literature. This study presents two adult cases of CNS tumors with EP300::BCOR fusion, which share similarities with CNS tumors having BCOR ITD in children. A literature review and meta-analysis indicate that CNS tumors with EP300::BCOR fusion are distinguishable from BCOR ITD tumors in terms of age, location, progression-free survival, tumor growth pattern, and immunopositivity for the BCOR protein. Thus, CNS tumors with EP300::BCOR fusion in adults may be included in future WHO classification.
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.
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