Targeted therapy for infants with diencephalic syndrome: A case report and review of management strategies |
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| Authors: | Lars M. Wagner John S. Myseros Douglas E. Lukins Christi M. Willen Roger J. Packer |
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| Affiliation: | 1. Division of Pediatric Hematology/Oncology, Kentucky Children's Hospital, University of Kentucky, Lexington, Kentucky;2. Division of Neurosurgery, Children's National Health System, George Washington University, Washington, District of Columbia;3. Department of Radiology, Kentucky Children's Hospital, University of Kentucky, Lexington, Kentucky;4. Department of Ophthalmology, Kentucky Children's Hospital, University of Kentucky, Lexington, Kentucky;5. Department of Neurology, Children's National Health System, George Washington University, Washington, District of Columbia;6. Center for Neuroscience and Behavioral Medicine, Children's National Health System, George Washington University, Washington, District of Columbia |
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| 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. |
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| Keywords: | BRAF diencephalic syndrome hypothalamic astrocytoma low‐grade glioma trametinib |
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