Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

@article{Soblet2013VariableST,
  title={Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.},
  author={Julie Soblet and Nisha Limaye and Melanie Uebelhoer and Laurence Myriam Boon and Miikka Vikkula},
  journal={Molecular syndromology},
  year={2013},
  volume={4 4},
  pages={179-83}
}
Venous malformations (VMs) are the most frequent vascular malformations referred to specialized vascular anomaly centers. A rare (1-2%) familial form, termed cutaneomucosal venous malformation (VMCM), is caused by gain-of-function mutations in TIE2. More recently, sporadic VMs, characterized by the presence of large unifocal lesions, were shown to be caused by somatic mutations in TIE2. These include a frequent L914F change, and a series of double mutations in cis. All of which cause ligand… CONTINUE READING

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