China Journal of Oral and Maxillofacial Surgery ›› 2023, Vol. 21 ›› Issue (3): 286-290.doi: 10.19438/j.cjoms.2023.03.014

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Summary of ISSVA classification of vascular anomalies and review of literature in molecular biology

LI Xiao1, FAN Xin-dong2, ZHENG Jia-wei3   

  1. 1. Second Dental Center, 2. Department of Interventional Therapy, 3. Department of Oromaxillofacial Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology; Shanghai Research Institute of Stomatology. Shanghai 200011, China
  • Received:2022-11-10 Revised:2022-12-02 Online:2023-05-20 Published:2023-08-16

Abstract: Vascular abnormalities are the general name of a group of diseases, which are divided into two categories by the International Society for the Study of Vascular Anomalies(ISSVA): vascular tumors and vascular malformations. In this paper, the latest research results of genetic changes in vascular diseases were summarized in combination with their molecular pathological manifestations. In glomuvenous malformations, the mutant globulin may activate PI3K signal through interaction with c-met. In addition, they may inhibit TGF-β-mediating smooth muscle cell differentiation and induce proliferation of so-called vascular globular cells. The mutation of PIK3CA in lymphatic malformation may stimulate the expression of VEGF-C or VEGFR3, induce the combination of PIK3CA with cell membrane, or increase cell proliferation, chemotaxis and angiogenesis by activating downstream Akt/mTOR. Mutation of RAS pathway in AVM may activate MEK/ERK signal, and RAS activation may induce morphological changes of endothelial cells, increase of budding behavior, expansion of vascular lumen, and abnormal connection between arteries and veins without cell proliferation. Mutation of VEGFR2 and TEM8 in infantile hemangioma leads to increased interaction between VEGFR2, TEM8 and integrin, and the resulting inactivation of integrin/NFATc2/VEGFR1 pathway may lead to phosphorylation of VEGFR2 and endothelial activation.

Key words: Venous malformation, Lymphatic malformation, Infantile hemangioma, Molecular biology

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