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.
Authors
- Nahla Mobarak
- Rana Alrasheed
- Basma Mahmoud AlYamany
- Sadeq Al‐Dandan (ORCID: https://orcid.org/0000-0003-3373-7327)
- A J Alzahrani
- Ali Alsawadi
- Sahar Mehecy
Institutions
- King Fahd Medical City (SA)
- Sudan Medical Specialization Board (SD)
- King Fahad Hospital Hufūf (SA)
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
- Field-Weighted Citation Impact
- 0.00