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Atypical anaplastic astrocytoma with unique molecular features and diffuse leptomeningeal spread in a child with

Yasmin Aghajan1, Denise M Malicki2, Michael L Levy3

  • 1School of Medicine, UC San Diego, La Jolla, California, USA.

BMJ Case Reports
|February 16, 2019
PubMed

Insights

Paediatric high-grade gliomas have a poor prognosis. A 9-year-old boy with disseminated anaplastic astrocytoma survived 8 years, showcasing potential for novel genetic insights in pediatric brain tumors.

Area of Science:

  • Pediatric neuro-oncology
  • Cancer genomics

Background:

  • Paediatric high-grade gliomas (HGGs) comprise 8-12% of pediatric CNS tumors.
  • These tumors have a dismal prognosis, with <30% 2-year survival and <10% overall survival.
  • Prognostic factors are limited to extent of resection and tumor grade.

Observation:

  • A 9-year-old boy presented with disseminated anaplastic astrocytoma.
  • Treatment included subtotal resection, craniospinal radiation, and temozolomide.
  • The patient achieved an 8-year survival despite metastatic disease and subtotal resection.

Findings:

  • Next-generation cancer gene panel sequencing was performed.
  • An unusual pattern of 12 amplifications and four mutations was identified.
  • These genetic alterations have not been previously described.

Implications:

  • This case highlights the potential for long-term survival in pediatric HGGs.
  • Novel genetic alterations may offer new therapeutic targets.
  • Further research into these genetic findings is warranted for pediatric brain tumor treatment.

Keywords:
cns cancerneurooncologypaediatric oncology

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