gms | German Medical Science

Objective: Molecular profiling is revolutionizing cancer diagnostics and leading to personalized therapeutic approaches, molecularly targeted agents have been designed to inhibit pathways critical to tumor genesis. While surgery, chemotherapy and radiation remain the first line therapy in low-grade glioma, targeted treatments are an option when first line therapy fails.

Methods: We report a case of a six-year-old boy with a non resectable suprasellar desmoplastic infantile astrocytoma WHO I° with a BRAF V600E mutation, he was diagnosed at the age of 4 months. The tumor was biopsied and he got polychemotherapy according to the SIOP LGG 2004 regime with carboplatine and vincristine. Initially he showed a good response followed by sustained disease stabilization. There was a disease progression 10 months after cessation of chemotherapy (at the age of 2,5 years) with infiltration of basal ganglia and mesencephalon. Therefore, the patient was started on vemurafenib.

Results: After 3 months the suprasellar part of the tumor was decreased by 70% and the tumor infiltration of the left internal capsule by almost 40%. After another 3 months there was a stable disease and vemurafenib was discontinued. During the next year the tumor remained stable but then a radiological progression was observed, with continuing tumor progression the child was re-started on vemurafenib. 3 Weeks after initiation of the therapy MRI showed a significant tumor reduction of 55%.

Conclusion: Although most pediatric low-grade glioma have a favorable prognosis, a significant minority is more aggressive. Surgical resection can be curative, but this is often not feasible due to the tendency of these tumors to present in midline locations. This case illustrates the therapeutic potential of BRAF V600E inhibitor monotherapy even in young children suffering from relapsing low-grade glioma.