EplastyPub Date : 2024-12-13eCollection Date: 2024-01-01
Jessica R Nye, Jackson C Green, Michael Talanker, Jose Barrera, Kate Richardson, Neethu M Menon, Adelaide A Hebert, Matthew R Greives, Autumn A Atkinson
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Rapid Response to Sirolimus in Patients with PIK3CA-Related Overgrowth Spectrum.
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term used to unify a heterogenous group of vascular overgrowth disorders by a shared genetic cause. Given that patients with PROS have a known, or likely, gene mutation in the PI3K/AKT/mTOR cascade, we hypothesize they experience a rapid response to inhibitors of this pathway, including sirolimus. In the following case series, we describe 3 patients with PROS and their response to sirolimus therapy. Despite their unique clinical presentations, insight into the genetic origin of their vascular overgrowth allowed for their successful treatment with the same medication.
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