Human Lymphatic Endothelial Cells Expressing NRASQ61R Model Characteristics of Kaposiform Lymphangiomatosis.

Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly characterized by lymphatic overgrowth and dysfunction. The goal of this study was to determine how the NRASQ61R variant found in the tissue of KLA patients impacts key characteristics of lymphatic endothelial cells (LEC). LEC expressing NRASQ61R had a spindled morphology, increased migration, increased proliferation, increased MAPK signaling, and elevated angiopoietin-2 production. In an in vitro lymphangiogenesis model, LEC expressing NRASQ61R showed increased sprouting and formed enlarged and disorganized vascular structures. This model of LEC expressing NRASQ61R can be used to give insights into KLA pathogenesis and test new treatments.