Atypical anaplastic astrocytoma with unique molecular features and diffuse leptomeningeal spread in a child with long-term survival

BMJ Case Rep. 2019 Feb 13;12(2):e228153. doi: 10.1136/bcr-2018-228153.

Abstract

Paediatric high-grade gliomas, including glioblastoma and anaplastic astrocytoma, make up 8%-12% of paediatric central nervous system tumours 1 and have poor prognosis, with 2-year survival less than 30% 2 and overall survival less than 10%. The only known prognostic factors in this population include extent of resection and tumour histological grade. We present the case of a 9-year-old boy with disseminated anaplastic astrocytoma treated with subtotal resection, craniospinal radiation and temozolomide, with 8-year survival despite metastatic disease at presentation and subtotal resection. Next generation cancer gene panel sequencing revealed an usual pattern of 12 amplifications and four mutations not previously described.

Keywords: cns cancer; neurooncology; paediatric oncology.

Publication types

  • Case Reports

MeSH terms

  • Astrocytoma / genetics
  • Astrocytoma / therapy*
  • Brain / surgery*
  • Chemoradiotherapy / methods*
  • Child
  • Gene Amplification
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Meningeal Neoplasms / genetics
  • Meningeal Neoplasms / therapy*
  • Mutation
  • Sequence Analysis, DNA
  • Survival Analysis
  • Temozolomide / therapeutic use
  • Treatment Outcome

Substances

  • Temozolomide