TY - JOUR
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
N1 - Publisher Copyright:
© 2022 Elsevier Inc.
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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U2 - 10.1016/j.clinimag.2022.06.017
DO - 10.1016/j.clinimag.2022.06.017
M3 - Review article
C2 - 35849880
AN - SCOPUS:85134428901
SN - 0899-7071
VL - 89
SP - 162
EP - 173
JO - Clinical Imaging
JF - Clinical Imaging
ER -