Genomic landscape of lymphatic malformations: a case series and response to the PI3Kα inhibitor alpelisib in an N-of-1 clinical trial
MF Shaheen, YT Julie, ES Sokol, M Masterson… - Elife, 2022 - elifesciences.org
Elife, 2022•elifesciences.org
Abstract 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 sequencing assay.
Immunohistochemical analyses were completed in parallel.
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 sequencing assay.
Immunohistochemical analyses were completed in parallel.
Abstract
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 sequencing assay. Immunohistochemical analyses were completed in parallel.
eLife