Syndromic vascular malformations related to the PIK3CA and RAS pathways: A clinical and imaging review

Yuko Tsujioka, Taiki Nozaki, Yasunari Niimi, Jay Starkey, Daisuke Hasegawa, Mutsuko Kondo, Mikako Enokizono, Akari Makidono, Tatsuo Kono, Masahiro Jinzaki

研究成果: Review article査読

抄録

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.

本文言語English
ページ(範囲)162-173
ページ数12
ジャーナルClinical Imaging
89
DOI
出版ステータスPublished - 2022 9月

ASJC Scopus subject areas

  • 放射線学、核医学およびイメージング

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