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Targeted therapy for infants with diencephalic syndrome: A case report and review of management strategies
Author(s) -
Wagner Lars M.,
Myseros John S.,
Lukins Douglas E.,
Willen Christi M.,
Packer Roger J.
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26917
Subject(s) - medicine , trametinib , emaciation , glioma , targeted therapy , astrocytoma , mek inhibitor , pediatrics , oncology , cancer research , cancer , mapk/erk pathway , kinase , biology , microbiology and biotechnology
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.