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01-04-2018 | Brief Communication

Marked functional recovery and imaging response of refractory optic pathway glioma to BRAFV600E inhibitor therapy: a report of two cases

Authors: Santhosh A. Upadhyaya, Giles W. Robinson, Julie H. Harreld, Paul D. Klimo Jr, Mary Ellen Hoehn, Brent A. Orr, Ibrahim A. Qaddoumi

Published in: Child's Nervous System | Issue 4/2018

Abstract

Background

Despite appropriate therapeutic interventions, progressive optic pathway glioma (OPG) in children may result in loss of vision and other neurologic morbidities. Molecularly targeted therapy against the MAP kinase pathway holds promise in improving outcomes while resulting in lower treatment-related toxicities. We report two children with refractory OPG who had a substantial and early reversal of their neurologic deficits and an impressive imaging response of their tumor to BRAFV600E inhibition therapy.

Methods

Two children with OPG (BRAFV600E-mutated pilocytic astrocytoma) who did not respond to at least one frontline therapy were treated with the oral BRAFV600E inhibitor vemurafenib.

Results

Both children had substantial visual compromise before start of therapy, with one child additionally having motor deficits. Both had an early improvement in their vision, and the second child showed a demonstrable improvement in motor weakness. This was accompanied by a decrease in tumor size, which was sustained at 6 months from therapy. Neither child had significant toxicities except for mild skin sensitivity to vemurafenib.

Conclusions

BRAFV600E inhibitor therapy can potentially reverse visual and neurologic decline associated with progressive OPG. The clinico-radiologic response appears to be prompt and marked. Ongoing clinical trials using BRAFV600E inhibitors can help confirm these early promising findings.

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Title: Marked functional recovery and imaging response of refractory optic pathway glioma to BRAFV600E inhibitor therapy: a report of two cases
Authors: Santhosh A. Upadhyaya
Giles W. Robinson
Julie H. Harreld
Paul D. Klimo Jr
Mary Ellen Hoehn
Brent A. Orr
Ibrahim A. Qaddoumi
Publication date: 01-04-2018
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 4/2018
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-018-3739-4

At a glance: The STEP trials

Springer Medicine

Marked functional recovery and imaging response of refractory optic pathway glioma to BRAFV600E inhibitor therapy: a report of two cases

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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