Novel Discovery of ROS1:PPFIBP1 fusion protein in General Lymphatic Anomaly

Abstract

Generalized lymphatic anomaly (GLA) is a morbid condition with few treatment options. Cure is currently not possible, and therefore, treatment is aimed at symptom relief, improving function, and slowing the progression of disease. Despite a recent explosion of knowledge in identifying the underlying pathogenic pathways that are involved in these disease processes, the genetic and biologic pathways underlying and driving these disorders remain poorly understood. Next-generation sequencing provides a unique tool that can help to unveil mutations in driver pathways expanding the use of targeted therapies. Here, we report the novel discovery of a ROS1 fusion protein, ROS1:PPFIBP1 in an adolescent with GLA. While ROS1 fusion proteins have been shown to be drivers of disease in various adult and pediatric cancers, they have not been previously reported in vascular anomalies. This discovery provides a basis for potential additional treatment options with recently Food and Drug Administration-approved ROS1 inhibitors.