LG-60OBJECTIVE RESPONSE TO VEMURAFENIB IN A CHILD TREATED FOR METASTATIC DESMOPLASTIC INFANTILE ASTROCYTOMA

LG-60. OBJECTIVE RESPONSE TO VEMURAFENIB IN A CHILD TREATED FOR METASTATIC DESMOPLASTIC INFANTILE ASTROCYTOMA Zdenek Pavelka1, Jitka Berkovcova2, Jarmila Skotakova3, Karel Zitterbart1, and Jaroslav Sterba1; Dept of Pediatric Oncology, University Children’s Hospital, Brno, Czech Republic; Dept of Oncological and Experimental Pathology, Masaryk Memorial Cancer Institute, Brno, Czech Republic; Dept of Pediatric Radiology, Brno, Czech Republic Desmoplastic infantile astrocytoma/ganglioglioma (DIA/DIG) is a rare primary neuroepithelial brain tumour, which typically occurs in infants aged between 1 and 24 months. Knowledge of the genetic background of DIA/ DIG is very limited, recently the presence of BRAFV600E mutation was described in some cases of DIA/DIG. We present a case of 11-month old girl with 5-month history of nystagmus. Magnetic resonance imaging of the brain andspineshowedcontrast enhancingmass inthesuprasellarregionwithspreading into both hemispheres and additional lesions in cerebellum and within the spine. Biopsy of the tumour was performed and histopathology examination revealed desmoplastic infantile astrocytoma. BRAF600E mutation in the tumour cells wasdetected bymoleculargenetic testing.The patient started treatment according to SIOP LGG 1997 protocol with vincristine and carboplatin. After 2 months of therapy, the girl was admitted to our clinic with clinical signs of intracranialhypertension.MRIshowedprogressionof the tumoursize,which lead to development of hydrocephalus. The installation of ventriculo-peritoneal shunt was performed. Due to progression on the first line therapy, we decided to start second line individualized therapy with weekly dose of vinblastine in combination with BRAF inhibitor vemurafenib. After 6 months of therapy with vinblastine + vemurafenib partial remission was documented on MRI together with clinical improvement. Conclusion: BRAF V600E mutation affects a subset of DIAs/DIGs and offers new therapeutic options. Neuro-Oncology 18:iii78–iii96, 2016. doi:10.1093/neuonc/now075.60 #The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.