Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb
María-Laura Cossio1,2, Josefina Rodríguez2, Juan Carlos Flores3,4
1Department of Dermatology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Insights
A PIK3CA inhibitor, alpelisib, successfully treated a 4-month-old girl with CLOVES syndrome, a severe PIK3CA-related overgrowth spectrum (PROS) condition. This offers a promising new treatment for this rare and serious overgrowth disorder.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Medicine
- Pharmacology
Background:
- PIK3CA-related overgrowth spectrum (PROS) comprises diverse conditions arising from somatic PIK3CA mutations.
- CLOVES syndrome is a particularly severe PROS phenotype associated with significant morbidity and mortality.
Abstract:
PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.
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