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Case Reports
. 2017 Apr;6(2):95-99.
doi: 10.2217/cns-2016-0034.

BRAF-V600E mutant papillary craniopharyngioma dramatically responds to combination BRAF and MEK inhibitors

Ashley Roque  1   2 , Yazmin Odia  1   2
Affiliations
Case Reports

BRAF-V600E mutant papillary craniopharyngioma dramatically responds to combination BRAF and MEK inhibitors

Ashley Roque et al. CNS Oncol. 2017 Apr.

Abstract

We present a patient with BRAF-V600E mutant papillary craniopharyngioma successfully treated with combination BRAF (dabrafenib 150 mg twice daily) and MEK (trametinib 2 mg daily) inhibitors after her unresectable tumor proved refractory to radiation. Serial brain MRIs and PET revealed marked tumor reduction with gradual neurological improvement and permanent panhypopituitarism.

Keywords: BRAF V600E; craniopharyngioma; dabrafenib; trametinib.

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Conflict of interest statement

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Figures

<b>Figure 1.</b>
Figure 1.. Pathology findings.
H&E-stained section revealed a well-circumscribed neoplasm with well-differentiated squamous epithelium surrounding a hypocellular fibrous stroma with stellate and bipolar-shaped cells (A: 100×). No mitotic figures, atypia or pleomorphism was seen. Immunohistochemistry for mutated BRAF-V600E was positive (B: 100×, Ventana VE1 clone). H&E: Hematoxylin and eosin; VE1: BRAF-V600E.
<b>Figure 2.</b>
Figure 2.. Imaging findings.
Axial postgadolinium T1-weighted images on MRI revealed a heterogeneously enhancing mass lesion in the diencephalon (white arrow), anterior and right of the third ventricle (A). The mass continually decreased in size by 2 months (B) and 5 months (C) after initiation of combination BRAF and MEK inhibitors. 18-Fluoro-deoxyglucose PET (FDG-PET) images revealed FDG-uptake in a circular mass lesion (black arrow) greatly reduced in size after treatment (G & H) compared with baseline (E & F). Cortical metabolic activity in the right hemisphere (*) was markedly decreased compared with the normal contralateral cortex (**) in the pretreatment FDG-PET (E), while the bihemispheric FDG uptake normalized post-treatment (H). FLAIR MRI reveal near disappearance of the tumor and edema at 7 months after treatment (I) compared with pretreatment (D). FDG-PET: 18-Fluoro-deoxyglucose PET; FLAIR: Fluid-attenuated inversion recovery.
See this image and copyright information in PMC

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