Differentiated In Vitro Efficacy of BYL719, ARQ092, and Rapamycin on Fibroblasts Isolated From a Chinese PIK3CA-Related Overgrowth Spectrum Individual With a Novel Variant.

Abstract excerpt

Postzygotic mutations of the PIK3CA gene constitutively activate the PI3K/AKT/mTOR pathway in patients with PIK3CA-related overgrowth spectrum (PROS), causing congenital mosaic tissue overgrowth. We established primary fibroblast cells from a patient with a novel somatic frameshift mutation (c.3190_3191insA, [p.H1065fs]) in PIK3CA, in which PI3K/AKT/mTOR signaling is activated compared to control fibroblasts. We...

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