Targeted therapy for infants with diencephalic syndrome: A case report and review of management strategies

Lars M. Wagner, John S. Myseros, Douglas E. Lukins, Christi M. Willen, Roger J. Packer

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

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 languageEnglish
Article numbere26917
JournalPediatric Blood and Cancer
Volume65
Issue number5
DOIs
StatePublished - 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

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