Somatic NRAS mutation in patient with generalized lymphatic anomaly

E Manevitz-Mendelson, GS Leichner, O Barel… - Angiogenesis, 2018 - Springer
E Manevitz-Mendelson, GS Leichner, O Barel, I Davidi-Avrahami, L Ziv-Strasser, E Eyal…
Angiogenesis, 2018Springer
Generalized lymphatic anomaly (GLA or lymphangiomatosis) is a rare disease characterized
by a diffuse proliferation of lymphatic vessels in skin and internal organs. It often leads to
progressive respiratory failure and death, but its etiology is unknown. Here, we isolated
lymphangiomatosis endothelial cells from GLA tissue. These cells were characterized by
high proliferation and survival rates, but displayed impaired capacities for migration and
tube formation. We employed whole exome sequencing to search for disease-causing …
Abstract
Generalized lymphatic anomaly (GLA or lymphangiomatosis) is a rare disease characterized by a diffuse proliferation of lymphatic vessels in skin and internal organs. It often leads to progressive respiratory failure and death, but its etiology is unknown. Here, we isolated lymphangiomatosis endothelial cells from GLA tissue. These cells were characterized by high proliferation and survival rates, but displayed impaired capacities for migration and tube formation. We employed whole exome sequencing to search for disease-causing genes and identified a somatic mutation in NRAS. We used mouse and zebrafish model systems to initially evaluate the role of this mutation in the development of the lymphatic system, and we studied the effect of drugs blocking the downstream effectors, mTOR and ERK, on this disease.
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