Author response: Genomic landscape of lymphatic malformations: a case series and response to the PI3Kα inhibitor alpelisib in an N-of-1 clinical trial
Year: 2022
Type: peer-review
Abstract: Pathogenic activating mutations in PIK3CA or NRAS were the most common genetic findings in a lymphatic malformation patient cohort and an N-of-1 trial of the PI3Kα inhibitor alpelisib in a patient with a PIK3CA mutation confirmed these findings are actionable.
Authors: Montaser F Shaheen, Julie Y Tse, Ethan S Sokol, Margaret Masterson, Pranshu Bansal, Ian Rabinowitz, Christy A Tarleton, Andrey S Dobroff, Tracey L Smith, Thèrése J Bocklage, Brian K Mannakee, Ryan N Gutenkunst, Joyce Bischoff, Scott A Ness, Gregory M Riedlinger, Roman Groisberg, Renata Pasqualini, Shridar Ganesan, Wadih Arap
Institutions: University of Arizona, University of Arizona Cancer Center, Foundation Medicine (United States), Rutgers, The State University of New Jersey, Rutgers Cancer Institute, University of New Mexico, UNM Comprehensive Cancer Center, Rutgers New Jersey Medical School, University of Kentucky, Markey Cancer Center, Boston Children's Hospital, Harvard University
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W4283813085