![]() These hotspot mutations show the most potent effect on enzymatic activation of PI3K and consequent downstream biological responses. PIK3CA-related cancers and PROS share almost the same PIK3CA mutational profile, with about 80% of mutations occurring at three hotspots, E542, E545, and H1047. These PIK3CA mutations occur as post-zygotic events and lead to a gain of function of PI3K, with consequent constitutional activation of the downstream cascades (e.g., AKT/mTOR pathway), involved in cellular proliferation, survival and growth, as well as in vascular development in the embryonic stage. These conditions are caused by somatic gain-of-function mutations in PIK3CA, which encodes the 110-kD catalytic α subunit of PI3K (p110α). PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical entities, which share the same pathogenetic mechanism. 6Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.5Department of Radiology, Meyer Children's University Hospital, Florence, Italy.4Department of Plastic Surgery, Meyer Children's University Hospital, Florence, Italy.3Department of Pediatrics, Meyer Children's University Hospital, Florence, Italy.2Dermatology Unit, Department of Pediatrics, Meyer Children's University Hospital, Florence, Italy.1Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.Angelica Pagliazzi 1, Teresa Oranges 2 *, Giovanna Traficante 1, Chiara Trapani 3, Flavio Facchini 4, Alessandra Martin 4, Alessandro Semeraro 5, Anna Perrone 5, Cesare Filippeschi 2 and Sabrina Giglio 1,6
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