Searchable abstracts of presentations at key conferences in endocrinology

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...