ea0034oc6.3 | Clinical | SFEBES2014
Parker Victoria
, Huson Susan
, Isaac Iona
, Harris Julie
, Payne Felicity
, Lindhurst Marjorie
, Barroso Ines
, Biesecker Leslie
, Semple Robert
Background: Phosphatidylinositol-3-kinase (PI3K) is a critical mediator of insulin action, and influences cellular growth, survival and metabolism. Recently, somatic gain-of-function mutations in the p110α catalytic subunit of PI3K (PIK3CA) have been found in a spectrum of overgrowth disorders, outlining the possibility of treatment with inhibitors of the PI3KAKTmTOR pathway.Methods/Results: A 37-year-old female, presented with life-long...