The University of Texas Health Science Center at Houston, Houston, TX, USA.
Childs Nerv Syst. 2024 Apr;40(4):1005-1010. doi: 10.1007/s00381-024-06290-2. Epub 2024 Jan 24.
Vascular anomalies are classified as either vascular tumors or vascular malformations. Vascular malformations can be difficult to diagnose and treat in the pediatric population and can masquerade as malignant processes. Understanding the genetics behind vascular malformations can lead to identification of specific mutations which can be treated with targeted immunotherapy.
Our case presents a pediatric patient with progressively enlarging vascular malformation despite multiple surgical resections and systemic medical treatments who underwent genetic evaluation and was found to have PIK3CA mutation.
After identification of PIK3CA mutation, our patient was successfully treated with the p110ɑ-specific inhibitor, alpelisib, with both shrinkage of malformation on follow-up imaging as well as gains in her developmental milestones.
Progressive vascular malformations in the pediatric population can be hard to diagnose and treat and are thought to arise from somatic mutations. Our case highlights a patient with progressive malformation despite multiple surgical resections who was successfully treated with targeted immunotherapy after proper identification of genetic mutation.
血管异常分为血管肿瘤或血管畸形。血管畸形在儿科人群中难以诊断和治疗，并且可能伪装成恶性过程。了解血管畸形背后的遗传学可以导致鉴定出特定的突变，这些突变可以用靶向免疫疗法治疗。
我们的病例介绍了一名儿科患者，尽管进行了多次手术切除和全身药物治疗，但血管畸形仍逐渐增大，随后进行了基因评估，发现存在 PIK3CA 突变。
鉴定出 PIK3CA 突变后，我们的患者成功接受了 p110ɑ 特异性抑制剂 alpelisib 的治疗，随访影像学显示畸形缩小，发育里程碑也有所提高。
儿科人群中进行性血管畸形难以诊断和治疗，被认为是由体细胞突变引起的。我们的病例强调了一名患者尽管进行了多次手术切除，但仍存在进行性畸形，在正确鉴定基因突变后，成功接受了靶向免疫治疗。
