Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.

Authors :: Chen H
Gao W
Liu H
Sun B
Hua C
Lin X
Source :: Annals of plastic surgery [Ann Plast Surg] 2023 May 01; Vol. 90 (5S Suppl 2), pp. S209-S215. Date of Electronic Publication: 2022 Dec 21.
Publication Year :: 2023
Abstract: Abstract: Hyperactivation of the PI3K/AKT/mTOR signaling pathway caused by PIK3CA mutations is associated with a category of overgrowth syndromes that are defined as PIK3CA -related overgrowth spectrum (PROS). The clinical features of PROS are highly heterogeneous and usually present as vascular malformations, bone and soft tissue overgrowth, and neurological and visceral abnormalities. Detection of PIK3CA variants is necessary for diagnosis and provides the basis for targeted therapy for PROS. Drugs that inhibit the PI3K pathway offer alternatives to conventional therapies. This article reviews the current knowledge of PROS and summarizes the latest progress in precise treatment, providing new insights into future therapies and research goals.<br />Competing Interests: Conflicts of interest and sources of funding: The authors have no conflict of any interest relevant to this article to disclose.<br /> (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)