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Published on: June 15, 2020
Syndromic vascular malformations related to the PIK3CA and RAS pathways: A clinical and imaging review
Yuko Tsujioka1, Taiki Nozaki2, Yasunari Niimi3
1Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Radiology, Keio University School of Medicine, Tokyo, Japan.
Abstract:
Vascular malformations are a complex and diverse group of disorders. They may enlarge with time, impair quality of life, and even be fatal. While many are sporadic, others are part of inherited syndromes; several gene mutations responsible for vascular anomalies have been identified. The PI3K/AKT/mTOR and RAS/MEK/ERK cascades have been extensively studied, and new molecular agents targeting these cascades are being developed. Diagnostic imaging findings are increasingly used to guide genetic testing, and in some cases, pathognomonic imaging characteristics can lead to a specific diagnosis. We review each of the representative syndromes associated with PIK3CA and RAS cascades, with updates of the latest in clinical and imaging information.
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