Central nervous system embryonal tumor with <i>BRD4-LEUTX</i> gene fusion: A rare case

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-LEUT X 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.

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Publication Details

Journal
International Journal of Health Sciences
Published
2025-07-01
DOI
https://doi.org/10.25259/ojs_8856
Primary Topic
Glioma Diagnosis and Treatment
Type
article
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article

Central nervous system embryonal tumor with BRD4-LEUTX gene fusion: A rare case

Nahla Mobarak, Rana Alrasheed, Basma Mahmoud AlYamany, Sadeq Al‐Dandan et al.
International Journal of Health Sciences
Glioma Diagnosis and Treatment
article

Central nervous system embryonal tumor with BRD4-LEUTX gene fusion: A rare case

Nahla Mobarak, Rana Alrasheed, Basma Mahmoud AlYamany, Sadeq Al‐Dandan, A J Alzahrani, Ali Alsawadi, Sahar Mehecy
article en

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-LEUT X 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.

International Journal of Health SciencesVol. 19
King Fahd Medical City (SA), Sudan Medical Specialization Board (SD), King Fahad Hospital Hufūf (SA)
Openalex Percentile: Top 78%
Glioma Diagnosis and Treatment
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