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EML4::ALK Fusions In Complex Lymphatic Malformations
  • +5
  • Beth Apsel Winger,
  • Walter Patrick Devine,
  • Edward C. Hsiao,
  • Matthew Zapala,
  • Jessica Van Ziffle,
  • Nalin Gupta,
  • Ilona Friedan,
  • Kristin Shimano
Beth Apsel Winger
University of California San Francisco Department of Pediatrics

Corresponding Author:[email protected]

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Walter Patrick Devine
University of California San Francisco Department of Pathology and Laboratory Medicine
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Edward C. Hsiao
University of California San Francisco Department of Medicine
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Matthew Zapala
University of California San Francisco Department of Radiology and Biomedical Imagery
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Jessica Van Ziffle
University of California San Francisco Department of Pathology and Laboratory Medicine
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Nalin Gupta
University of California San Francisco Department of Neurological Surgery
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Ilona Friedan
University of California San Francisco Department of Dermatology
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Kristin Shimano
University of California San Francisco Department of Pediatrics
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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 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.
05 Apr 2023Submitted to Pediatric Blood & Cancer
05 Apr 2023Submission Checks Completed
05 Apr 2023Assigned to Editor
06 Apr 2023Review(s) Completed, Editorial Evaluation Pending
09 Apr 2023Reviewer(s) Assigned
02 May 2023Editorial Decision: Revise Minor
23 May 20231st Revision Received
23 May 2023Submission Checks Completed
23 May 2023Assigned to Editor
23 May 2023Review(s) Completed, Editorial Evaluation Pending
30 May 2023Reviewer(s) Assigned
12 Jun 2023Editorial Decision: Accept