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

doi:10.1016/j.clinimag.2022.06.017

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

Diagnostic Radiology

Research output: Contribution to journal › Review article › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	162-173
Number of pages	12
Journal	Clinical Imaging
Volume	89
DOIs	https://doi.org/10.1016/j.clinimag.2022.06.017
State	Published - Sep 2022

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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10.1016/j.clinimag.2022.06.017

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title = "Syndromic vascular malformations related to the PIK3CA and RAS pathways: A clinical and imaging 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.",

keywords = "Imaging findings, Molecular targeted therapy, PI3K/AKT/mTOR pathway, RAS/MEK/ERK pathway, Syndromic vascular malformations",

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year = "2022",

month = sep,

doi = "10.1016/j.clinimag.2022.06.017",

language = "English (US)",

volume = "89",

pages = "162--173",

journal = "Clinical Imaging",

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T1 - Syndromic vascular malformations related to the PIK3CA and RAS pathways

T2 - A clinical and imaging review

AU - Tsujioka, Yuko

AU - Nozaki, Taiki

AU - Niimi, Yasunari

AU - Starkey, Jay

AU - Hasegawa, Daisuke

AU - Kondo, Mutsuko

AU - Enokizono, Mikako

AU - Makidono, Akari

AU - Kono, Tatsuo

AU - Jinzaki, Masahiro

PY - 2022/9

Y1 - 2022/9

N2 - 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.

AB - 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.

KW - Imaging findings

KW - Molecular targeted therapy

KW - PI3K/AKT/mTOR pathway

KW - RAS/MEK/ERK pathway

KW - Syndromic vascular malformations

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DO - 10.1016/j.clinimag.2022.06.017

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JO - Clinical Imaging

JF - Clinical Imaging

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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