Juan Carlos López Gutiérrez1, Rocío Lizarraga2, Carlos Delgado3, María José Martínez Urrutia4, Mercedes Díaz3, Miriam Miguel3, Paloma Triana3. 1. Vascular Anomalies Center, Department of Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain. Electronic address: queminfantil.hulp@salud.madrid.org. 2. Department of Pediatric Surgery, Donostia Hospital, San Sebastián, Spain. 3. Vascular Anomalies Center, Department of Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain. 4. Urology Section, Department of Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain.
Abstract
BACKGROUND: 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. CASE: 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. SUMMARY AND CONCLUSION: PIK3CA inhibitors might become a new option of treatment for PIK3CA-related overgrowth spectrum patients.
BACKGROUND: 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. CASE: 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. SUMMARY AND CONCLUSION:PIK3CA inhibitors might become a new option of treatment for PIK3CA-related overgrowth spectrum patients.
Authors: Wei-Liang Chen; Emily Pao; James Owens; Ian Glass; Colin Pritchard; Brain H Shirts; Christina Lockwood; Ghayda M Mirzaa Journal: Cold Spring Harb Mol Case Stud Date: 2022-04-28