EML4::ALK fusions in complex lymphatic malformations |
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| Authors: | Beth Apsel Winger Walter Patrick Devine Edward C Hsiao Matthew Zapala Jessica Van Ziffle Nalin Gupta Ilona J Frieden Kristin A Shimano |
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| Institution: | 1. Department of Pediatrics, Division of Hematology, University of California San Francisco, San Francisco, California, USA;2. Department of Pathology, University of California San Francisco, San Francisco, California, USA;3. Department of Medicine, and the Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA;4. Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California, USA;5. Department of Neurological Surgery, University of California San Francisco, San Francisco, California, USA;6. Department of Dermatology, University of California San Francisco, San Francisco, California, USA |
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| 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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| Keywords: | molecular genetics pediatric hematology/oncology signal transduction therapeutics vascular malformations |
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