Laboratory Investigation

Researchers led by the University of Osaka analyzed lymphatic malformations from 34 patients and found shared molecular features regardless of whether PIK3CA mutations were detected. The PI3K/AKT/mTOR pathway was activated in malformed lymphatic vessels, while spatial transcriptomics highlighted NFATC1, associated with the calcineurin-NFAT pathway, as a possible contributor to the disease pathogenesis. The findings deepen the understanding of lymphatic malformations and may help refine existing treatments and identify new therapeutic targets.