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- W4387014249 abstract "Vascular anomalies (VA) encompass a heterogenous group of rare disorders that can pose a diagnostic and therapeutic challenge to physicians due to their diverse, yet overlapping, morphology. In 2013, the classification PROS, PIK3CA-Related Overgrowth Spectrum, was proposed to consolidate a group of overgrowth disorders linked by a shared genetic cause, gain-of-function pathogenic variants in the PIK3CA gene. This somatic pathogenic variant results in the aberrant activity of PI3K, a regulator of mammalian target of rapamycin (mTOR). mTOR is a serine/threonine kinase whose activation results in cell growth, proliferation, and angiogenesis. Currently, Vascular Anomalies teams across the globe are using sirolimus, an mTOR inhibitor, for the treatment of vascular tumors and malformations. While this is a known treatment modality, the following cases highlight the rapid clinical improvement seen in patients with PROS while taking oral sirolimus. The phenotypic presentation of a patient with PROS is highly variable and no two patients with this diagnosis will look the same, nor will they experience identical complications. The cases discussed all meet the criteria for a presumptive PROS diagnosis, but each patient presented to clinic for the treatment of different complications arising from their unique vascular malformation. Although each malformation had a distinct phenotype, the association with an abnormal PIK3CA gene allowed for all patients to experience pronounced improvement in their symptoms within the first four to six weeks of sirolimus therapy. The rapid clinical improvement seen in this case series further reenforces the indication of sirolimus for the treatment of PROS." @default.
- W4387014249 created "2023-09-26" @default.
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- W4387014249 date "2023-09-01" @default.
- W4387014249 modified "2023-09-26" @default.
- W4387014249 title "42428 Rapid Response to Sirolimus in Patients with PIK3CA-Related Overgrowth Spectrum (PROS)" @default.
- W4387014249 doi "https://doi.org/10.1016/j.jaad.2023.07.327" @default.
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