Searchable abstracts of presentations at key conferences in endocrinology

ea0034oc6.3 | Clinical | SFEBES2014

Sirolimus therapy for a patient with segmental overgrowth due to a mosaic activating mutation in phosphatidylinositol-3-kinase

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 PI3K–AKT–mTOR pathway.Methods/Results: A 37-year-old female, presented with life-long...

ea0031p146 | Growth and development | SFEBES2013

Pre-clinical investigation of therapy for segmental overgrowth caused by constitutive activation of phosphoinositide-3 kinas: lessons for cancer therapy

Parker Victoria , Groeneveld Matthijis , Zhang Qifeng , Rudge Simon , Lindhurst Marjorie , Huson Susan , O'Rahilly Steven , Biesecker Leslie , Barroso Ines , Wakelam Michael , Semple Robert

Introduction: We recently reported cases of segmental overgrowth due to mosaic heterozygous activating mutations in the p110α catalytic subunit of PI3K. The index case presented with life-long, massive overgrowth of both legs with a lean upper body. Mobility was threatened by continued growth. mTORC1 inhibition has been effective at slowing excess growth due to loss of PTEN function, a negative regulator of PI3K. We hypothesised that mTORC1 inhibition would also be effect...