title: BRAF-Mutated Pleomorphic Xanthoastrocytoma of the Spinal Cord with Eventual Anaplastic Transformation.
abstract: BACKGROUND
  Pleomorphic xanthoastrocytoma (PXA) is an uncommon, primary neoplasm of the central nervous system with a relatively favorable prognosis. Most patients are managed with surgery alone and experience significant long-term survival. PXAs occur most commonly along the superficial surfaces of the temporal lobes. Although these tumors may occur in other regions of the brain, their origin within the spinal cord is rare, and it is unclear whether spinal cord PXAs should be managed differently from their intracranial counterparts.
  
  
  METHODS
  We describe a 31-year-old patient with a PXA of spinal cord origin who despite surgery, radiation, and multiple chemotherapy regimens experienced anaplastic transformation of his tumor and died of extensive leptomeningeal progression.
  
  
  CONCLUSIONS
  To our knowledge, our patient represents the seventh reported case of PXA of the spinal cord but is the first described to have a BRAF mutation. Specifically, both the initial and recurrent tumors of the patient showed the same BRAF V600E mutation, which refutes previous suggestions that BRAF mutations may be limited to intracranial PXAs and also shows that BRAF mutations may occur earlier in PXA tumorigenesis.
authors.affiliation: Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut, USA.
authors.forename: Christopher S
authors.initials: CS
authors.lastname: Hong
authors.affiliation: Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Joshua L
authors.initials: JL
authors.lastname: Wang
authors.affiliation: Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: David
authors.initials: D
authors.lastname: Dornbos
authors.affiliation: Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Joehlin-Price
authors.affiliation: Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA. Electronic address: brad.elder@osumc.edu.
authors.forename: James Bradley
authors.initials: JB
authors.lastname: Elder
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001254:Astrocytoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000473:pathology; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D008159:Lumbar Vertebrae; D008279:Magnetic Resonance Imaging; D008297:Male; D008577:Meningeal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009154:Mutation / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012008:Recurrence; D012086:Reoperation; D013120:Spinal Cord Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D013904:Thoracic Vertebrae
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Anaplastic; BRAF; Pleomorphic xanthoastrocytoma; Spinal tumor