AI Article Synopsis
- Gorham-Stout disease (GSD) and generalized lymphatic anomaly (GLA) are types of complex lymphatic malformations that can cause severe issues like pain and fractures due to bone involvement.
- Somatic mosaic mutations in oncogenes are commonly found in these conditions, and while the drug sirolimus can help some patients, it doesn’t work for everyone.
- A report on two patients, one each with GSD and GLA, revealed the presence of EML4::ALK fusions, indicating the potential for targeted therapies, which could enhance treatment strategies for these vascular malformations.
Article Abstract
Gorham-Stout disease (GSD) and generalized lymphatic anomaly (GLA) are subtypes of complex lymphatic malformations (CLMs) with osseous involvement that cause significant complications, including pain and pathologic fractures. As with other vascular anomalies, somatic mosaic mutations in oncogenes are often present, and the mTOR inhibitor sirolimus alleviates symptoms in some, but not all, patients. We describe two patients, one with GSD and one with GLA, 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 suggests additional targeted therapies could be effective.
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| http://dx.doi.org/10.1002/pbc.30516 | DOI Listing |
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