Somatic PIK3CA and PTEN mutations with endothelial PI3K/AKT/mTOR activation in RAS-negative brain arteriovenous malformations.
Yukiko Hata, Ryo Tanaka, Shojiro Ichimata et al.
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Case in brief
This report details two autopsy-confirmed brain arteriovenous malformations (bAVMs) with somatic PIK3CA mutations, one of which also had a PTEN alteration. Both cases exhibited typical bAVM architecture and showed activation of the PI3K/AKT/mTOR pathway in endothelial cells, while adjacent normal vessels were negative. The findings suggest a significant role of the PI3K pathway in RAS-negative bAVMs.
Diagnostic / clinical pearl
Clinicians should consider the potential role of PIK3CA mutations in the pathogenesis of RAS-negative brain arteriovenous malformations, highlighting the importance of genetic assessment in understanding these lesions.
Why it matters
This case underscores the molecular heterogeneity of bAVMs and the need for integrated genetic and pathological evaluations to better understand their underlying mechanisms.