Abstract
Gorham-Stout disease (GSD) and generalized lymphatic anomaly (GLA) are
subtypes of complex lymphatic malformations (CLMs) with osseous
involvement that cause significant complications in children, including
pain and pathologic fractures. Mutations in cellular growth pathways are
common, and the mTOR inhibitor sirolimus alleviates symptoms in some,
but not all, patients. We describe two patients, one with GSD and one
with GLA, who were found to have EML4::ALK fusions. This report of a
targetable, oncogenic fusion in vascular malformations expands our
understanding of the genetic basis for CLMs and suggesting additional
targeted therapies could be effective.