Division of Hematology/Oncology/BMT, Nationwide Children's Hospital, and Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Pediatr Blood Cancer. 2022 Aug;69 Suppl 3:e29320. doi: 10.1002/pbc.29320.
Vascular anomalies are a heterogeneous group of disorders that are currently classified based on their clinical and histological characteristics. Over the past decade, there have been significant advances in molecular genetics that have led to identification of genetic alterations associated with vascular tumors, vascular malformations, and syndromes. Here, we describe known genetic alterations in vascular anomalies, discuss when and how to test, and examine how identification of causative genetic mutations provides for better management of these disorders through improved understanding of their pathogenesis and increasing use of targeted therapeutic agents in order to achieve better outcomes for our patients.
血管异常是一组异质性疾病，目前根据其临床和组织学特征进行分类。在过去的十年中，分子遗传学取得了重大进展，确定了与血管肿瘤、血管畸形和综合征相关的遗传改变。在这里，我们描述了血管异常的已知遗传改变，讨论了何时以及如何进行检测，并研究了鉴定致病基因突变如何通过更好地了解发病机制以及增加靶向治疗药物的使用来更好地管理这些疾病，从而为我们的患者带来更好的结果。
