Effect of PIK3CA variants on glioma-related epilepsy and response to treatment
Steven Tobochnik1, William Pisano2, Emily Lapinskas2
1Department of Neurology, Brigham and Women's Hospital, Boston, MA, United States; VA Boston Healthcare System, Boston, MA, United States.
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.
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