Metastatic Low-Grade Glioma Successfully Treated in a Pediatric Patient With BRAF A598_T599insI Mutation

IF 1.9 Q4 ONCOLOGY

Cancer reports Pub Date : 2025-08-05 DOI:10.1002/cnr2.70309

Pierluigi Calò, Safiatou Diallo, Laetitia Lebrun, Nathalie Gilis, Marco Preziosi, Pierre Leblond

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Abstract

Background

Pediatric low-grade gliomas are common brain tumors often driven by MAPK pathway alterations, including rare BRAF mutations.

Case

This case report describes the first use of treatment combining dabrafenib and trametinib in a 10-year-old boy with pleomorphic xanthoastrocytoma harboring a BRAF A598_T599insI mutation. Surgery and chemotherapy failed, leading to metastatic progression; yet targeted therapy has achieved a sustained clinical and radiological response, lasting more than 2 years.

Conclusion

This case highlights the potential of RAF/MEK inhibitors in rare BRAF-mutated tumors and underscores the need for research to optimize treatment duration, manage side effects, and explore their role in non-canonical mutations.

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BRAF A598_T599insI突变的儿童患者成功治疗转移性低级别胶质瘤

儿童低级别胶质瘤是一种常见的脑肿瘤，通常由MAPK通路改变驱动，包括罕见的BRAF突变。本病例报告描述了一名患有BRAF A598_T599insI突变的多形性黄色星形细胞瘤的10岁男孩首次使用达非尼和曲美替尼联合治疗。手术和化疗失败，导致转移进展；然而，靶向治疗已取得持续的临床和放射反应，持续时间超过2年。本病例强调了RAF/MEK抑制剂在罕见braf突变肿瘤中的潜力，并强调了优化治疗时间、控制副作用和探索其在非典型突变中的作用的研究需求。

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