Central nervous system embryonal tumor with BRD4-LEUTX gene fusion: A rare case
Year: 2025
Type: article
Study design: Case Report
Abstract: The World Health Organization classification of embryonal central nervous system (CNS) tumors continues to evolve, with molecular profiling enhancing diagnostic accuracy, prognosis, and treatment strategies. The BRD4-LEUTX gene fusion is a rare genetic alteration identified in a small subset of embryonal CNS tumors, though its oncogenic role remains poorly understood. We present a case of a 2-year-old girl who presented with a large intraventricular mass, diagnosed as an embryonal CNS tumor with BRD4-LEUTX fusion following histopathological, immunohistochemical, and molecular analyses. Despite multimodal therapy, the disease demonstrated aggressive progression, reinforcing the poor prognosis associated with this tumor subtype. Given the limited number of reported cases, further documentation of BRD4-LEUTX fusion tumors is essential to expand the current literature, refine molecular subclassification, and guide the development of potential targeted therapies.
DOI: 10.25259/ojs_8856
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4411894014