Classification and Tie2 mutations in spinal and soft tissue vascular anomalies

• Vascular malformations (VMs) are mediated by mutations in Tie2.
• Three missense mutations in exon 17 of Tie2 gene were identified in VMs.
• We identified Tie2 mutation in primary spinal VMs for the first time.
• MRNA level of Tie2 gene in VMs was obviously lower than infant hemangiomas.

Vascular anomalies included hemangiomas and vascular malformations (VMs). VMs are mediated by mutations in the endothelial cell-specific receptor tyrosine kinase Tie2 (TEK),which is essential for angiogenesis and vascular stabilization. We identified five types of Tie2 mutations in 80 patients with soft tissue or spinal VMs by PCR including the previously detected missense mutations 2690A > G (Y897C), 2740C > T (L914F), 2743C > T (R915C), and two nonsense mutations 2763G > A, 2688C > T, we identified Tie2 mutation in primary spinal VMs for the first time. Tie2 mutations were found to be absent in 33 patients with hemangiomas and DNA samples of VMs. In addition, we showed that Tie2 mRNA expression in spinal VMs was similar to soft tissue VMs, but obviously lower than infant hemangiomas (P < 0.01). This study provides new insights into spinal VMs, the association of Tie2 and vascular anomalies needs to be further discussed.