Division of Pediatric Hematology/Oncology, Kentucky Children's Hospital, University of Kentucky, Lexington, Kentucky.
Division of Neurosurgery, Children's National Health System, George Washington University, Washington, District of Columbia.
Pediatr Blood Cancer. 2018 May;65(5):e26917. doi: 10.1002/pbc.26917. Epub 2018 Jan 25.
Young children with emaciation caused by a hypothalamic glioma are considered to have diencephalic syndrome (DS), which is often poorly controlled with conventional treatment. We describe an infant with DS whose tumor progressed following chemotherapy. Biopsy was performed for molecular testing and demonstrated a BRAF fusion. Treatment with the MEK inhibitor trametinib for 18 months resulted in reduction of tumor size, normalization of his weight curve, and marked neurodevelopmental improvement. Our results build on earlier reports of using targeted agents for low-grade glioma, and we review the evolving management strategy for such patients in the era of precision medicine.
由于下丘脑胶质瘤导致消瘦的幼儿被认为患有间脑综合征（DS），常规治疗往往难以控制。我们描述了一例 DS 婴儿，其肿瘤在化疗后进展。进行了活检以进行分子检测，结果显示存在 BRAF 融合。用 MEK 抑制剂曲美替尼治疗 18 个月导致肿瘤缩小，体重曲线正常化，神经发育显著改善。我们的结果建立在早期使用靶向药物治疗低级别胶质瘤的报告基础上，并且我们在精准医学时代回顾了此类患者的不断发展的管理策略。
