Adams Denise M
Vascular Anomalies Center, Department of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Tech Vasc Interv Radiol. 2019 Dec;22(4):100629. doi: 10.1016/j.tvir.2019.100629. Epub 2019 Sep 21.
Vascular anomalies are classified as either tumors or malformations based on clinical findings rendered through radiologic evaluation, physical exam, and histologic interpretation. These findings comprise the phenotype of the disorder. Recently, advances in the molecular genetics of vascular anomalies have shed light on the genotype of these disorders. These phenotype/genotype characterizations will provide a more precise classification of vascular anomalies and identify potential therapeutic targets for expanded treatment options in the future. In this chapter, we will review the phenotype/genotype characterizations and the possible therapeutic pathways for targeted pharmacologic therapy.
根据通过放射学评估、体格检查和组织学解释得出的临床结果，血管异常被分类为肿瘤或畸形。这些结果构成了该疾病的表型。最近，血管异常分子遗传学的进展揭示了这些疾病的基因型。这些表型/基因型特征将为血管异常提供更精确的分类，并确定未来扩大治疗选择的潜在治疗靶点。在本章中，我们将回顾表型/基因型特征以及靶向药物治疗的可能治疗途径。
