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Phosphatidylinositol 3-kinase signaling promotes cell growth and survival and is frequently activated in infiltrative gliomas. Activating mutations in  PIK3CA  gene are observed in 6–15% of glioblastomas, although their clinical significance is largely undescribed. The objective of this study was to examine whether  PIK3CA  mutations are associated with a specific clinical phenotype in glioblastoma. We retrospectively reviewed 157 consecutive newly diagnosed glioblastoma patients from December 2009 to June 2012 who underwent molecular profiling consisting of targeted hotspot genotyping, fluorescence in situ hybridization for gene amplification, and methylation-specific PCR for O 6 -methylguanine-DNA methyltransferase promoter methylation. Molecular alterations were correlated with clinical features, imaging and outcome. The Cancer Genome Atlas data was analyzed as a validation set. There were 91 males; median age was 58 years (range, 23–85). With a median follow-up of 20.9 months, median progression-free survival (PFS) and estimated overall survival (OS) were 11.9 and 24.0 months, respectively. Thirteen patients (8.3%) harbored  PIK3CA  mutation, which was associated with younger age (mean 49.4 vs. 58.1 years,  p  = 0.02).  PIK3CA  mutation correlated with shorter PFS (median 6.9 vs. 12.4 months,  p  = 0.01) and OS (median 21.2 vs. 24.2 months,  p  = 0.049) in multivariate analysis. A significant association between  PIK3CA  mutation and more disseminated disease at diagnosis, as defined by gliomatosis, multicentric lesions, or distant leptomeningeal lesions, was observed (46.2% vs. 11.1%,  p  = 0.004). In conclusion, despite the association with younger age,  PIK3CA  activating mutations are associated with earlier recurrence and shorter survival in adult glioblastoma. The aggressive course of these tumors may be related to their propensity for disseminated presentation.   Electronic supplementary material  The online version of this article (10.1186/s40478-019-0720-8) contains supplementary material, which is available to authorized users.

PIK3CA activating mutations are associated with more disseminated disease at presentation and earlier recurrence in glioblastoma