Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Radiology, Keio University School of Medicine, Tokyo, Japan.
Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Radiology, Keio University School of Medicine, Tokyo, Japan; Department of Radiology, St. Luke's International Hospital, Tokyo, Japan.
Clin Imaging. 2022 Sep;89:162-173. doi: 10.1016/j.clinimag.2022.06.017. Epub 2022 Jul 2.
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.
血管畸形是一组复杂且多样的疾病。它们可能随时间而增大，降低生活质量，甚至危及生命。虽然许多是散发性的，但也有一些是遗传性综合征的一部分；已经确定了几种导致血管异常的基因突变。PI3K/AKT/mTOR 和 RAS/MEK/ERK 级联已被广泛研究，针对这些级联的新分子药物正在开发中。诊断成像发现越来越多地用于指导基因检测，在某些情况下，特征性成像特征可以导致特定的诊断。我们回顾了与 PIK3CA 和 RAS 级联相关的每个代表性综合征，并更新了最新的临床和影像学信息。
