Genomic Landscape of Lymphatic Malformations: A Case Series and Response to the PI3Kα Inhibitor Alpelisib in an N-of-One Clinical Trial
Montaser F. Shaheen, Julie Y. Tse, Ethan S. Sokol, Margaret Masterson, Pranshu Bansal, Ian Rabinowitz, Christy A. Tarleton, Andrey S. Dobroff, Tracey L. Smith, Therese J. Bocklage, Brian K. Mannakee, Ryan N. Gutenkunst, Joyce E. Bischoff, Scott A. Ness, Gregory Riedlinger, , Wadih Arap
This paper reports the genomic profile of lymphatic malformations, identifies PIK3CA and NRAS mutations, and shows a response to the PI3K inhibitor alpelisib in a personalized trial.
eLife · Jun 16, 2022Peer-reviewedGenetic & Genomic Medicine