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

doi:10.1002/pbc.26917

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 journal › Article › peer-review

15 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 language	English
Article number	e26917
Journal	Pediatric Blood and Cancer
Volume	65
Issue number	5
DOIs	https://doi.org/10.1002/pbc.26917
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

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

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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AU - Wagner, Lars M.

AU - Myseros, John S.

AU - Lukins, Douglas E.

AU - Willen, Christi M.

AU - Packer, Roger J.

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AB - 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.

KW - BRAF

KW - diencephalic syndrome

KW - hypothalamic astrocytoma

KW - low-grade glioma

KW - trametinib

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

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