TY - JOUR
T1 - Exploring a distinct FGFR2::DLG5 rearrangement in a low-grade neuroepithelial tumor: A case report and mini-review of protein fusions in brain tumors
AU - Palacio, Paola Loreto
AU - Pan, Xiaokang
AU - Jones, Dan
AU - Javier Otero, Jose
N1 - Publisher Copyright:
© The Author(s) 2024. Published by Oxford University Press on behalf of American Association of Neuropathologists, Inc. All rights reserved.
PY - 2024/7/1
Y1 - 2024/7/1
N2 - We report the novel clinical presentation of a primary brain neoplasm in a 30-year-old man with a mass-like area in the anteromedial temporal lobe. Histopathological analysis revealed a low-grade neuroepithelial tumor with cytologically abnormal neurons and atypical glial cells within the cerebral cortex. Molecular analysis showed a previously undescribed FGFR2::DLG5 rearrangement. We discuss the clinical significance and molecular implications of this fusion event, shedding light on its potential impact on tumor development and patient prognosis. Additionally, an extensive review places the finding in this case in the context of protein fusions in brain tumors in general and highlights their diverse manifestations, underlying molecular mechanisms, and therapeutic implications.
AB - We report the novel clinical presentation of a primary brain neoplasm in a 30-year-old man with a mass-like area in the anteromedial temporal lobe. Histopathological analysis revealed a low-grade neuroepithelial tumor with cytologically abnormal neurons and atypical glial cells within the cerebral cortex. Molecular analysis showed a previously undescribed FGFR2::DLG5 rearrangement. We discuss the clinical significance and molecular implications of this fusion event, shedding light on its potential impact on tumor development and patient prognosis. Additionally, an extensive review places the finding in this case in the context of protein fusions in brain tumors in general and highlights their diverse manifestations, underlying molecular mechanisms, and therapeutic implications.
KW - Brain tumor
KW - FGFR2
KW - FGFR2::DLG5 fusion
KW - Low-grade neuroepithelial tumor
UR - http://www.scopus.com/inward/record.url?scp=85196767496&partnerID=8YFLogxK
U2 - 10.1093/jnen/nlae040
DO - 10.1093/jnen/nlae040
M3 - Article
C2 - 38833313
AN - SCOPUS:85196767496
SN - 0022-3069
VL - 83
SP - 567
EP - 578
JO - Journal of Neuropathology and Experimental Neurology
JF - Journal of Neuropathology and Experimental Neurology
IS - 7
ER -