Effect of PIK3CA variants on glioma-related epilepsy and response to treatment

Epilepsy Res. 2021 Sep:175:106681. doi: 10.1016/j.eplepsyres.2021.106681. Epub 2021 Jun 2.

Abstract

Upregulation of the PI3K/AKT/mTOR pathway has been implicated in glioma-related epileptogenesis. In this retrospective analysis, epilepsy characteristics and response to treatment were evaluated in patients with gliomas harboring somatic mutation variants in PIK3CA. A cohort of 134 patients with 150 PIK3CA variants was extracted from previously validated databases. Patients with the hotspot H1047R, R88Q, E542K, and G118D variants comprised a subset (n = 41) for epilepsy phenotyping. In multivariate analysis, the presence of H1047R (n = 15) was associated with worse seizure control (p = 0.026). These results support preclinical findings and suggest that glioma PIK3CA variation may have promise as a biomarker for epilepsy severity and response to treatment.

Keywords: Epilepsy; Focal seizure; Glioma; PIK3CA; Somatic mutation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Class I Phosphatidylinositol 3-Kinases* / genetics
  • Epilepsy* / etiology
  • Epilepsy* / genetics
  • Glioma* / complications
  • Glioma* / genetics
  • Glioma* / therapy
  • Humans
  • Mutation / genetics
  • Retrospective Studies

Substances

  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human