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

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)162-173
Number of pages12
JournalClinical Imaging
Volume89
DOIs
Publication statusPublished - 2022 Sep

Keywords

  • Imaging findings
  • Molecular targeted therapy
  • PI3K/AKT/mTOR pathway
  • RAS/MEK/ERK pathway
  • Syndromic vascular malformations

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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