title: Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1.
abstract: BACKGROUND
  Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known.
  
  
  METHODS
  We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c.2970-2972 delAAT) in exon 17 of the NF1 gene, which is correlated with a milder phenotype. The patient underwent a partial surgical resection of the spinal cord tumor followed by adjuvant carboplatin 560 mg/m2every 4 weeks. Radiation was avoided due to risks associated with neurofibromatosis type 1.
  
  
  RESULTS
  At the 11-month follow-up, the patient maintained a partial radiographic response as well as complete resolution of her neurologic deficits.
  
  
  CONCLUSIONS
  To our knowledge, this is the first reported case of an adult patient with neurofibromatosis type 1 and a spinal cord PMA. Single-agent carboplatin was effective and well-tolerated.
authors.affiliation: Department of Neurosurgery, Duke University Medical Center, Durham, N.C., USA.
authors.forename: Anastasie M
authors.initials: AM
authors.lastname: Dunn-Pirio
authors.affiliation: Duke University School of Medicine, Durham, N.C., USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Howell
authors.affiliation: Department of Pathology, Duke University Medical Center, Durham, N.C., USA.
authors.forename: Roger E
authors.initials: RE
authors.lastname: McLendon
authors.affiliation: Department of Neurosurgery, Duke University Medical Center, Durham, N.C., USA; Department of Neurology, Duke University Medical Center, Durham, N.C., USA.
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Peters
keywords: Astrocytoma; Carboplatin; Neurofibromatosis type 1; Pilomyxoid astrocytoma; Spinal cord tumor