ORIGINAL RESEARCH article
Front. Oncol.
Sec. Pediatric Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1537268
This article is part of the Research TopicRecent Biological Insights into Pediatric Brain TumorsView all 12 articles
Prevalence and prognostic impact of BRAF V600E mutation and CDKN2A deletion in pediatric high-grade glioma
Provisionally accepted
Soha Karim Sallam*
Amal MosaabHala Taha
Eman KhorshedAmal Refaat
Eslam MaherMohamed Saad ZaghloulMohamed El-BeltagyHanafy HafezMohamed KamalSherine SalemMark W Kieran
Ahmed Elhemaly*
Alaa Elhaddad- Children's Cancer Hospital Egypt 57357, Cairo, Egypt
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Background and aim: Pediatric high-grade glioma (pHGG) is a rare and challenging disease in childhood oncology, characterized by dismal outcomes despite aggressive therapeutic interventions. Identifying prognostic markers and targeted therapeutic avenues is crucial for improving patient outcomes. Methods: We conducted a retrospective study involving 130 pediatric patients with HGG treated at the Children's Cancer Hospital Egypt 57357 between July 2007 and December 2018. Demographic, clinical, and molecular data were collected, and BRAF V600E mutation and CDKN2A deletion status were assessed using molecular techniques. Results: Out of 130 patients, 128 underwent BRAF analysis and 7% harbored the BRAF V600E mutation (n:9) and 129 patients underwent CDKN2A analysis. Of those, 78 patients (60%) had CDKN2A deletion, 18 patients had homozygous CDKN2A deletions, and 60 had heterozygous deletions. Conclusion: Age, tumor site, and extent of resection significantly influenced outcomes, while neither BRAF V600E mutation nor CDKN2A deletion status significantly impacted this cohort's progression-free survival (PFS).
Keywords: Ahmed Elhemaly: Conceptualization, Data curation, supervision, Validation, Writing -review & editing. Alaa Elhaddad: Supervision, Writing -review & editing. Amal Mosaab: Investigation, methodology, Writing -review & editing. Amal Refaat: Validation
Received: 30 Nov 2024; Accepted: 21 Jul 2025.
Copyright: © 2025 Sallam, Mosaab, Taha, Khorshed, Refaat, Maher, Zaghloul, El-Beltagy, Hafez, Kamal, Salem, Kieran, Elhemaly and Elhaddad. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Soha Karim Sallam, Children's Cancer Hospital Egypt 57357, Cairo, Egypt
Ahmed Elhemaly, Children's Cancer Hospital Egypt 57357, Cairo, Egypt
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