一名患有BRAF A598_T599insI突变的儿科患者的转移性低级别胶质瘤得到成功治疗。
Metastatic Low-Grade Glioma Successfully Treated in a Pediatric Patient With BRAF A598_T599insI Mutation.
作者信息
Calò Pierluigi, Diallo Safiatou, Lebrun Laetitia, Gilis Nathalie, Preziosi Marco, Leblond Pierre
机构信息
Department of Pediatric Oncology, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), Hopital Universitaire Des Enfants Reine Fabiola, Brussels, Belgium.
Department of Pathology, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Erasme University Hospital, Brussels, Belgium.
出版信息
Cancer Rep (Hoboken). 2025 Aug;8(8):e70309. doi: 10.1002/cnr2.70309.
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.
背景
小儿低级别胶质瘤是常见的脑肿瘤，通常由丝裂原活化蛋白激酶（MAPK）通路改变驱动，包括罕见的BRAF突变。
病例
本病例报告描述了首次在一名患有BRAF A598_T599insI突变的多形性黄色星形细胞瘤的10岁男孩中联合使用达拉非尼和曲美替尼进行治疗。手术和化疗均失败，导致肿瘤转移进展；然而，靶向治疗已取得持续的临床和影像学缓解，持续时间超过2年。
结论
本病例突出了RAF/MEK抑制剂在罕见BRAF突变肿瘤中的潜力，并强调了开展研究以优化治疗持续时间、管理副作用以及探索其在非典型突变中的作用的必要性。
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