Severe lymphatic disorder resolved with MEK inhibition in a patient with Noonan syndrome and SOS1 mutation
Y Dori, C Smith, E Pinto, K Snyder, ME March… - …, 2020 - publications.aap.org
Noonan syndrome is a multiorgan system disorder mediated by genetic defects along the rat
sarcoma–mitogen-activated protein kinase (RAS-MAPK) pathway known as RASopathies. It
is the second most common syndromic cause of congenital heart disease and, in∼ 20% of
the cases, is associated with severe lymphatic disorders, including chylothorax and protein-
losing enteropathy. Recently, we reported on the use of mitogen-activated protein kinase
inhibition in a patient with a-rapidly accelerated fibrosarcoma mutation and severe lymphatic …
sarcoma–mitogen-activated protein kinase (RAS-MAPK) pathway known as RASopathies. It
is the second most common syndromic cause of congenital heart disease and, in∼ 20% of
the cases, is associated with severe lymphatic disorders, including chylothorax and protein-
losing enteropathy. Recently, we reported on the use of mitogen-activated protein kinase
inhibition in a patient with a-rapidly accelerated fibrosarcoma mutation and severe lymphatic …