Article
Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.
Annals of plastic surgery - 1 May 2023
Chen Hongrui, Gao Wei, Liu Hongyuan, Sun Bin, Hua Chen, Lin Xiaoxi
Abstract excerpt
ABSTRACT: Hyperactivation of the PI3K/AKT/mTOR signaling pathway caused by PIK3CA mutations is associated with a category of overgrowth syndromes that are defined as PIK3CA -related overgrowth spectrum (PROS). The clinical features of PROS are highly heterogeneous and usually present as vascular malformations, bone and soft tissue overgrowth, and neurological and visceral abnormalities. Detection of PIK3CA...
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