Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients

Pediatr Neurol. 2014 Apr;50(4):307-12. doi: 10.1016/j.pediatrneurol.2013.12.004. Epub 2013 Dec 10.

Abstract

Background: Subependymal giant cell astrocytoma is a brain tumor associated with tuberous sclerosis complex. There are two treatment options for subependymal giant cell astrocytomas: surgery or mammalian target of rapamycin inhibitor. The analysis of outcome of subependymal giant cell astrocytoma surgery may help characterize the patients who may benefit from pharmacotherapy.

Methods: Sixty-four subependymal giant cell astrocytoma surgeries in 57 tuberous sclerosis complex patients with at least a 12-month follow-up were included in the study. The tumor size, age of the patients, mutation in the TSC1 or TSC2 gene, indication for the surgery, and postsurgical complications were analyzed.

Results: The mean age of patients at surgery was 9.7 years. Mean follow-up after surgery was 63.7 months. Thirty-seven (57.8%) tumors were symptomatic and 27 (42.2%) were asymptomatic. Patients with TSC2 mutations developed subependymal giant cell astrocytoma at a significantly younger age than individuals with TSC1 mutations. Four patients (6.2% of all surgeries) died after surgery. Surgery-related complications were reported in 0%, 46%, 83%, 81%, and 67% of patients with tumors <2 cm, between 2 and 3 cm, between 3 and 4 cm, >4 cm, and bilateral subependymal giant cell astrocytomas, respectively, and were most common in children younger than 3 years of age. The most common complications included hemiparesis, hydrocephalus, hematoma, and cognitive decline.

Conclusions: Our study indicates that subependymal giant cell astrocytoma surgery is associated with significant risk in individuals with bilateral subependymal giant cell astrocytomas, tumors bigger than 2 cm, and in children younger than 3 years of age. Therefore, tuberous sclerosis complex patients should be thoroughly screened for subependymal giant cell astrocytoma growth, and early treatment should be considered in selected patients.

Keywords: mTOR inhibitors; outcome; prognostic factor; subependymal giant cell astrocytoma; surgery; tuberous sclerosis complex.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Astrocytoma / complications*
  • Astrocytoma / genetics
  • Astrocytoma / pathology
  • Astrocytoma / surgery*
  • Brain / pathology
  • Brain / surgery
  • Brain Neoplasms / complications*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology
  • Brain Neoplasms / surgery*
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Neurosurgical Procedures / adverse effects
  • Risk Factors
  • Treatment Outcome
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / pathology
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics
  • Young Adult

Substances

  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins