Article
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Neurogenetics - 1 May 2018
Ranieri C, Di Tommaso S, Loconte D C, Grossi V, Sanese P, Bagnulo R, Susca F C, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò A D, Abbadessa G, Yu Y, Schwartz B, Ruggieri Martino, Simone Cristiano, Resta Nicoletta
Abstract excerpt
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could...
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