Congratulation to Quitterie for her work on PIK3CA inhibition in patients with PIKC3CA Related Overgrowth Syndrome published in Nature!
The team recently demonstrated the efficacy of a novel medication, a specific inhibitor called BYL719, in a cohort of 19 patients treated at the Necker-Enfants Malades Hospital – AP-HP and suffering from CLOVES Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformation, Epidermal Naevi) or similar disorders. This medication is currently undergoing therapeutic oncology trials (phase I/II). No significant side effects have been observed 18 months after commencement of treatment. This study, published in the journal Nature, is an example of precision medicine and demonstrates the major benefits of this therapeutic strategy for these patients, who have seen their health and quality of life improve significantly.
Molecular targeted therapy in patients with PIK3CA-related overgrowth syndrome
Quitterie Venot1, Thomas Blanc1,2,3*, Smail Hadj Rabia2,4,5*, Laureline Berteloot5,6, Sophia Ladraa1, Jean-Paul Duong2,7, Estelle Blanc8, Simon C. Johnson9, Clément Hoguin1, Olivia Boccara4, Sabine Sarnacki2,3, Nathalie Boddaert2,5,6, Stephanie Pannier2,10, Frank Martinez11, Sato Magassa1, Junna Yamaguchi1, Bertrand Knebelmann1,2,11, Pierre Merville12,13, Nicolas Grenier14, Dominique Joly1,2,11, Valérie Cormier-Daire2,5,15, Caroline Michot2,5,15, Christine Bole-Feysot5, Arnaud Picard2,16, Véronique Soupre16, Stanislas Lyonnet2,5,15, Jeremy Sadoine17, Lotfi Slimani17, Catherine Chaussain2,17, Cécile Laroche-Raynaud18, Laurent Guibaud19, Christine Broissand20, Jeanne Amiel2,5,15, Christophe Legendre1,2,11, Fabiola Terzi1,2, Guillaume Canaud1,2,11†.
Nature, 13 June 2018