LymphedemaV1, Main, Exploration, bibRecord, 003000

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

Identifieur interne : 003000 ( Main/Exploration ); précédent : 002F99; suivant : 003001

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

Auteurs : J. Soblet [Belgique] ; N. Limaye [Belgique] ; M. Uebelhoer [Belgique] ; L. M. Boon [Belgique] ; M. Vikkula [Belgique]

Source :

Molecular Syndromology [ 1661-8769 ] ; 2013.

RBID : PMC:3666452

Abstract

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-independent receptor hyperphosphorylation in vitro. Here, we expanded our study to assess the range of mutations that cause sporadic VM. To test for somatic changes, we screened the entire coding region of TIE2 in cDNA from resected VMs by direct sequencing. We detected TIE2 mutations in 17/30 (56.7%) of the samples. In addition to previously detected mutations, we identified 7 novel somatic intracellular TIE2 mutations in sporadic VMs, including 3 that cause premature protein truncation.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666452

DOI: 10.1159/000348327
PubMed: 23801934
PubMed Central: 3666452

Affiliations:

Le document en format XML

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 Mutations in Half of Sporadic Venous Malformations</title>
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<front><div type="abstract" xml:lang="en"><p>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 <italic>TIE2</italic>
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. These include a frequent L914F change, and a series of double mutations in cis. All of which cause ligand-independent receptor hyperphosphorylation in vitro. Here, we expanded our study to assess the range of mutations that cause sporadic VM. To test for somatic changes, we screened the entire coding region of <italic>TIE2</italic>
 in cDNA from resected VMs by direct sequencing. We detected <italic>TIE2</italic>
 mutations in 17/30 (56.7%) of the samples. In addition to previously detected mutations, we identified 7 novel somatic intracellular <italic>TIE2</italic>
 mutations in sporadic VMs, including 3 that cause premature protein truncation.</p>
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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

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Abstract

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