title: Pilomyxoid astrocytoma treated successfully with vemurafenib.
abstract: The BRAF V600E missense mutation is known to be present in a subset of central nervous system tumors. We report a patient with a BRAF V600E mutated pilomyxoid astrocytoma who failed multiple conventional chemotherapy regimens. Treatment with vemurafenib, a molecularly targeted therapy against the mutant BRAF V600E kinase, combined with vinblastine resulted in tumor regression. Furthermore, this patient experienced almost immediate progression of disease after holding vemurafenib for only 2-3 weeks, suggesting that the tumor response is vemurafenib dependent. This population of patients may benefit from targeted therapy and testing of individual tumors for BRAF mutations is justified.
authors.affiliation: Department of Pediatric Hematology and Oncology, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Mary
authors.initials: M
authors.lastname: Skrypek
authors.forename: Nicholas
authors.initials: N
authors.lastname: Foreman
authors.forename: Daniel
authors.initials: D
authors.lastname: Guillaume
authors.forename: Christopher
authors.initials: C
authors.lastname: Moertel
mesh_terms: D001254:Astrocytoma / Q000188:drug therapy* / Q000235:genetics; D001932:Brain Neoplasms / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D007211:Indoles / Q000627:therapeutic use*; D007223:Infant; D008297:Male; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000037:antagonists & inhibitors* / Q000235:genetics; D013449:Sulfonamides / Q000627:therapeutic use*; D000077484:Vemurafenib
chemical_list: D007211:Indoles; D013449:Sulfonamides; D000077484:Vemurafenib; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: CNS tumors; brain tumors; tumor markers