Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation

Pediatrics
Yoav DoriJean B Belasco

Abstract

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 disorder leading to an abrupt improvement in symptoms and complete remodeling of the central lymphatic system. Here, we present a patient with Noonan syndrome and severe lymphatic abnormality, leading to transfusion-dependent upper gastrointestinal bleeding and protein-losing enteropathy. The patient stopped responding to medical therapy and underwent several lymphatic interventional procedures, which led only to a temporary improvement in symptoms. Because of a lack of other treatment options, an expanded access approval was obtained, and the patient initiated treatment by mitogen-activated protein kinase inhibition using trametinib. This led to resolution of her symptoms, with complete normalization ...Continue Reading

Citations

Jun 25, 2021·Circulation Research·Taija MäkinenKari Alitalo
Aug 18, 2021·Seminars in Thoracic and Cardiovascular Surgery·Jonathan M Chen

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