title: Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.
abstract: 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.
authors.affiliation: Department of Pathology, Tumor Hospital, Xinjiang Medical University, Urumqi, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Zhou
authors.affiliation: Department of Bone, Tumor Hospital, Xinjiang Medical University, Urumqi, China.
authors.forename: Renbing
authors.initials: R
authors.lastname: Jiang
authors.affiliation: Department of Ultrasonography, Traditional Chinese Medical Hospital, Xinjiang Medical University, Urumqi, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Zhao
authors.affiliation: Department of Pathology, Fudan University Shanghai Cancer Center, Fudan University, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
authors.forename: Lisha
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Pathology, Peking University Third Hospital, Beijing, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Pathology, Tumor Hospital, Xinjiang Medical University, Urumqi, China.
authors.forename: Wenting
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Pathology, Tumor Hospital, Xinjiang Medical University, Urumqi, China.
authors.forename: Yiqun
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Pathology, Fudan University Shanghai Cancer Center, Fudan University, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China. Electronic address: dx2008cn@163.com.
authors.forename: Xiang
authors.initials: X
authors.lastname: Du
authors.affiliation: Department of Bone, Tumor Hospital, Xinjiang Medical University, Urumqi, China. Electronic address: baijingping1022@sina.com.
authors.forename: Jingping
authors.initials: J
authors.lastname: Bai
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D015870:Gene Expression; D051272:Glucose Transporter Type 1 / Q000378:metabolism; D006392:Hemangioma, Cavernous / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D042787:Receptor, TIE-2 / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013125:Spinal Neoplasms / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D054079:Vascular Malformations / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D042787:Receptor, TIE-2
keywords: Hemangioma; Mutation; Spinal; Tie2; Vascular malformation