López Gutiérrez Juan Carlos, Lizarraga Rocío, Delgado Carlos, Martínez Urrutia María José, Díaz Mercedes, Miguel Miriam, Triana Paloma
Vascular Anomalies Center, Department of Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain.
Department of Pediatric Surgery, Donostia Hospital, San Sebastián, Spain.
J Pediatr Adolesc Gynecol. 2019 Dec;32(6):648-650. doi: 10.1016/j.jpag.2019.07.003. Epub 2019 Jul 19.
Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA)-related overgrowth spectrum become symptomatic early in life and need treatment before puberty. Recently, the specific inhibition of PIK3CA pathways has been proposed as a therapeutic option for these patients improving their surgical options and quality of life. Alpelisib, a specific alpha fraction inhibitor, has shown promising results.
A 17-year-old girl presented with severe involvement of her external genitalia with a combined vascular malformation in the context of congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi and spinal/skeletal anomalies and/or scoliosis syndrome, needing frequent blood transfusions for anemia due to vaginal bleeding and use of a crutch for walking. After failure of treatment with rapamycin, compassionate treatment with alpelisib was started with excellent response.
PIK3CA inhibitors might become a new option of treatment for PIK3CA-related overgrowth spectrum patients.
大多数患有磷脂酰肌醇-3-激酶催化α多肽（PIK3CA）相关过度生长谱系疾病的患者在生命早期出现症状，需要在青春期前接受治疗。最近，PIK3CA通路的特异性抑制已被提议作为这些患者的一种治疗选择，可改善其手术选择和生活质量。阿培利司，一种特异性α亚基抑制剂，已显示出有前景的结果。
一名17岁女孩，患有先天性脂肪瘤样过度生长、血管畸形、表皮痣和脊柱/骨骼异常及/或脊柱侧凸综合征，伴有严重的外生殖器受累及合并血管畸形，因阴道出血导致贫血需要频繁输血，行走需使用拐杖。雷帕霉素治疗失败后，开始使用阿培利司进行同情性治疗，效果极佳。
PIK3CA抑制剂可能成为PIK3CA相关过度生长谱系患者的一种新的治疗选择。
