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EML4::ALK fusions in complex lymphatic malformations.

Beth Apsel Winger1,2, Walter Patrick Devine3, Edward C Hsiao4

  • 1Department of Pediatrics, Division of Hematology, University of California San Francisco, San Francisco, California, USA.

Pediatric Blood & Cancer
|June 28, 2023
PubMed
Summary
This summary is machine-generated.

Gorham-Stout disease and generalized lymphatic anomaly can involve bone complications. Researchers identified EML4::ALK fusions in these complex lymphatic malformations, suggesting new targeted therapy options.

Keywords:
molecular geneticspediatric hematology/oncologysignal transduction therapeuticsvascular malformations

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Area of Science:

  • Oncology
  • Genetics
  • Vascular Biology

Background:

  • Gorham-Stout disease (GSD) and generalized lymphatic anomaly (GLA) are complex lymphatic malformations (CLMs) with bone involvement.
  • These conditions cause pain and fractures, often linked to somatic mosaic mutations in oncogenes.
  • While sirolimus offers some relief, its efficacy varies, highlighting the need for alternative treatments.

Purpose of the Study:

  • To investigate the genetic underpinnings of CLMs with osseous involvement.
  • To identify potential targetable mutations in patients with GSD and GLA.
  • To explore novel therapeutic strategies for complex lymphatic malformations.

Main Methods:

  • Case report describing two patients with GSD and GLA.
  • Genetic analysis to identify specific molecular alterations.
  • Review of existing literature on CLMs and oncogenic mutations.

Main Results:

  • Two patients, one with GSD and one with GLA, were found to harbor EML4::ALK fusions.
  • This oncogenic fusion represents a novel genetic finding in vascular malformations with bone involvement.
  • The identified fusion suggests a potential therapeutic target.

Conclusions:

  • EML4::ALK fusions are identified in complex lymphatic malformations with osseous involvement.
  • This discovery expands the understanding of the genetic basis of CLMs.
  • Targeted therapies, such as ALK inhibitors, may offer new treatment avenues for affected patients.