Article
Genomic landscape of lymphatic malformations: a case series and response to the PI3Kα inhibitor alpelisib in an N-of-1 clinical trial.
eLife - 5 Jul 2022
Shaheen Montaser F, Tse Julie Y, Sokol Ethan S, Masterson Margaret, Bansal Pranshu, Rabinowitz Ian, Tarleton Christy A, Dobroff Andrey S, Smith Tracey L, Bocklage Thèrése J, Mannakee Brian K, Gutenkunst Ryan N, Bischoff Joyce, Ness Scott A, Riedlinger Gregory M, Groisberg Roman, Pasqualini Renata, Ganesan Shridar, Arap Wadih
Abstract excerpt
Background: Lymphatic malformations (LMs) often pose treatment challenges due to a large size or a critical location that could lead to disfigurement, and there are no standardized treatment approaches for either refractory or unresectable cases. Methods: We examined the genomic landscape of a patient cohort of LMs (n = 30 cases) that underwent comprehensive genomic profiling using a large-panel next-generation...
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