Abstract
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.
Original language | English |
---|---|
Article number | e26917 |
Journal | Pediatric Blood and Cancer |
Volume | 65 |
Issue number | 5 |
DOIs | |
State | Published - May 2018 |
Bibliographical note
Publisher Copyright:© 2018 Wiley Periodicals, Inc.
Keywords
- BRAF
- diencephalic syndrome
- hypothalamic astrocytoma
- low-grade glioma
- trametinib
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology