Alpelisib for Treatment of Patients With PIK3CA-Related Overgrowth Spectrum (PROS).
Fiche publication
Date publication
août 2023
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr VABRES Pierre
Tous les auteurs :
Canaud G, Gutierrez JCL, Irvine AD, Vabres P, Hansford JR, Ankrah N, Branle F, Papadimitriou A, Ridolfi A, O'Connell P, Turner S, Adams DM
Lien Pubmed
Résumé
PROS encompasses several rare conditions resulting from activating variants in PIK3CA. Alpelisib, a PI3Kα-selective inhibitor, targets the underlying etiology of PROS, offering a novel therapeutic approach to current management strategies. This study evaluated the safety and efficacy of alpelisib in pediatric and adult patients with PROS.
Mots clés
PIK3CA, PROS, alpelisib, overgrowth
Référence
Genet Med. 2023 08 24;:100969