Somatic overgrowth syndromes and their underlying genetic causes are an emerging area of research and treatment. The PI3K/AKT/mTOR signaling pathway is essential for regulating normal cell growth and division, disruption of which can lead to a diverse array of overlapping disease states including a spectrum of somatic overgrowth disorders. The goal of this exhibit is to familiarize radiologists with the clinical and imaging manifestations of disease states resulting from the above genetic aberration. We first review the physiology of the PI3K/AKT/mTOR signaling pathway and the mechanisms by which its disruption can lead to disease. We then discuss the spectrum of pathology which can result from such a disruption. We overview the genetic aspects of the disease, focusing on overgrowth syndromes including fibroadipose vascular anomaly (FAVA), Parkes Weber, Klippel-Trenaunay, CLOVES syndrome, and PTEN hamartoma tumor syndrome. We then present imaging findings for each of these syndromes using cases encountered at our own institution. Radiologists familiar with clinical-radiologic findings of these entities can direct patients to appropriate genetic testing, thereby guiding decisions regarding endovascular therapy, surgery, and recently available oral medications. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Kelly Anna, Huang Jessie, Carlock Hunter, Chaturvedi Apeksha

Keywords: Genetics