Cancer and Blood Disorders Center, Division of Hematology/Oncology, Dana Farber Cancer Institute and Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Cancer and Blood Diseases Institute, Division of Hematology, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH, United States.
Semin Pediatr Surg. 2020 Oct;29(5):150974. doi: 10.1016/j.sempedsurg.2020.150974. Epub 2020 Sep 23.
Overgrowth syndromes represent a diverse group of disorders with overlapping features. Interdisciplinary management by a team of experts in vascular anomalies is crucial for establishing the correct diagnosis and optimizing outcomes for these patients. Unique management considerations include increased risk for thrombosis and in some cases, cancer. In recent years, research has demonstrated that these disorders are primarily caused by somatic mutations in growth pathways, particularly the PI3K-mTOR pathway. This improved understanding had led to promising new therapies for this group of patients.
发育过度综合征是一组具有重叠特征的不同疾病。血管异常方面的专家团队进行跨学科管理对于为这些患者确立正确的诊断和优化治疗结果至关重要。独特的管理注意事项包括血栓形成风险增加，在某些情况下还会增加癌症风险。近年来，研究表明这些疾病主要是由生长途径中的体细胞突变引起的，特别是 PI3K-mTOR 途径。这种认识的提高为这组患者带来了有希望的新疗法。
