Chen Sheng,Shen Weiming.Research advances in the pathogenesis of special venous malformations[J].Journal of Clinical Pediatric Surgery,2022,21(01):89-92.[doi:10.3760/cma.j.cn.101785-202008001-017]
特殊类型静脉畸形发病机制研究进展
- Title:
- Research advances in the pathogenesis of special venous malformations
- 关键词:
- 动静脉畸形/病因学; 静脉/畸形; 静脉/解剖学和组织学
- Keywords:
- Arteriovenous Malformations/ET; Venous/AB; Venous/AH
- 摘要:
- 静脉畸形（venous malformation，VM）是最常见的血管畸形，根据其临床和组织学特征目前主要可分为普通静脉畸形和特殊类型静脉畸形。特殊类型静脉畸形主要包括家族性皮肤黏膜VM、蓝色橡皮乳头样痣（Bean）综合征、球形细胞VM等。除普通VM外，其余VM多伴有多个部位的病变。近年来随着基因测序技术的发展，关于这些特殊类型VM的文献报道逐渐增多。本文将对这些特殊类型的VM进行简要概述，并对其发病机制的研究进展进行综述。
- Abstract:
- Venous malformation (VM) is the most common vascular malformation.According to its clinicohistological characteristics, it can be divided into common and special venous malformations.The latter type is composed of familial VM cutaneomucosal, blue rubber bleb nevus (Bean) syndrome and glomuvenous malformation.Except for common VM, most VMs are accompanied with multiple lesions.In recent years, with rapid developments of gene sequencing technology, a growing body of literature has elaborated upon special VMs.This review offered a brief overview of special VMs and summarized their pathogenetic mechanisms.
参考文献/References:
[1] Vikkula M,Boon LM,Carraway KL 3rd,et al.Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2[J].Cell,1996,87(7):1181-1190.DOI:10.1016/s0092-8674(00)81814-0.
[2] Shu W,Lin Y,Hua R,et al.Cutaneomucosal venous malformations are linked to the TIE2 mutation in a large Chinese family[J].Exp Dermatol,2012,21(6):456-457.DOI:10.1111/j.1600-0625.2012.01492.x.
[3] Zú?iga-Castillo M,Teng CL,Teng JMC.Genetics of vascular malformation and therapeutic implications[J].Curr Opin Pediatr,2019,31(4):498-508.DOI:10.1097/mop.0000000000000794.
[4] Du Z,Ma HL,Zhang ZY,et al.Transgenic expression of a venous malformation related mutation,TIE2-R849W,significantly induces multiple malformations of zebrafish[J].Int J Med Sci,2018,15(4):385-394.DOI:10.7150/ijms.23054.
[5] Kangas J,N?tynki M,Eklund L.Development of molecular therapies for venous malformations[J].Basic Clin Pharmacol Toxicol,2018,123(Suppl 5):6-19.DOI:10.1111/bcpt.13027.
[6] Isoldi S,Belsha D,Yeop I,et al.Diagnosis and management of children with blue rubber bleb nevus syndrome:A multi-center case series[J].Dig Liver Dis,2019,51(11):1537-1546.DOI:10.1016/j.dld.2019.04.020.
[7] Soblet J,Kangas J,N?tynki M,et al.Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations[J].J Invest Dermatol,2017,137(1):207-216.DOI:10.1016/j.jid.2016.07.034.
[8] Wong XL,Phan K,Rodríguez Bandera AI,et al.Sirolimus in blue rubber bleb naevus syndrome:A systematic review[J]. J Paediatr Child Health,2019,55(2):152-155.DOI:10.1111/jpc.14345.
[9] Yin J,Qin Z,Wu K,et al.Rare germline GLMN variants identified from blue rubber bleb nevus syndrome might impact mTOR signaling[J].Comb Chem High Throughput Screen,2019,22(10):675-682.DOI:10.2174/1386207322666191203110042.
[10] Anwár G,Elma PA,Adib JS,et al.Blue rubber bleb nevus syndrome with multiple cavernoma-like lesions on MRI:a familial case report and literature review[J].Front Neurol,2020,11:176.DOI:10.3389/fneur.2020.00176.
[11] Brouillard P,Ghassibé M,Penington A,et al.Four common glomulin mutations cause two thirds of glomuvenous malformations ( "familial glomangiomas" ):evidence for a founder effect[J].J Med Genet,2005,42(2):e13.DOI:10.1136/jmg.2004.024174.
[12] Esteves M,César A,Baudrier T,et al.A case of familial glomuvenous malformation with report of a novel genetic mutation[J].Int J Dermatol,2019,Sep 4.DOI:10.1111/ijd.14613.
[13] Wetzel-Strong SE,Detter MR,Marchuk DA.The pathobiology of vascular malformations:insights from human and model organism genetics[J].J Pathol,2017,241(2):281-293.DOI:10.1002/path.4844.
[14] Paolacci S,Zulian A,Bruson A,et al.Vascular anomalies:molecular bases,genetic testing and therapeutic approaches[J].Int Angiol,2019,38(2):157-70.DOI:10.23736/s0392-9590.19.04154-3.
[15] Abou-Fadel J,Vasquez M,Grajeda B,et al.Systems-wide analysis unravels the new roles of CCM signal complex (CSC)[J].Heliyon,2019,5(12):e02899.DOI:10.1016/j.heliyon.2019.e02899.
[16] Antognelli C,Trapani E,Delle Monache S,et al.KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress:Implication for cerebral cavernous malformation disease[J].Free Radic Biol Med,2018,115:202-218.DOI:10.1016/j.freeradbiomed.2017.11.014.
[17] Padarti A,Zhang J.Recent advances in cerebral cavernous malformation research[J].Vessel Plus,2018,2:21.DOI:10.20517/2574-1209.2018.34.
[18] Fisher OS,Deng H,Liu D,et al.Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex[J].Nat Commun,2015,6:7937.DOI:10.1038/ncomms8937.
[19] Zhou Z,Tang AT,Wong WY,et al.Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling[J].Nature,2016,532(7597):122-126.DOI:10.1038/nature17178.
[20] Bergametti F,Denier C,Labauge P,et al.Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations[J].Am J Hum Genet,2005,76(1):42-51.DOI:10.1086/426952.
[21] Lant B,Pal S,Chapman EM,et al.Interrogating the ccm-3 gene network[J].Cell Rep,2018,24(11):2857-68.e4.DOI:10.1016/j.celrep.2018.08.039.
[22] Wang K,Zhou HJ,Wang M.CCM3 and cerebral cavernous malformation disease[J].Stroke Vasc Neurol,2019,4(2):67-70.DOI:10.1136/svn-2018-000195.
[23] Cetinkaya A,Xiong JR,Vargel ?,et al.Loss-of-function mutations in ELMO2 cause intraosseous vascular malformation by impeding RAC1 signaling[J].Am J Hum Genet,2016,99(2):299-317.DOI:10.1016/j.ajhg.2016.06.008.
[24] Vargel I,Calis M,Canter HI,et al.Clinical and molecular study of elmo-2-related massive intraosseous vascular malformations:lessons learned from 25 years of follow-up[J].Ann Plast Surg,2019,83(3):293-299.DOI:10.1097/sap.0000000000001786.
[25] Wang Y,Li H,Li F.ELMO2 association with Gαi2 regulates pancreatic cancer cell chemotaxis and metastasis[J].Peer J,2020,8:e8910.DOI:10.7717/peerj.8910.
[26] Mehawej C,Hoischen A,Farah RA,et al.Homozygous mutation in ELMO2 may cause Ramon syndrome[J].Clin Genet,2018,93(3):703-706.DOI:10.1111/cge.13166.
[27] Beijnen UEA,Saldanha F,Ganske I,et al.Verrucous venous malformations of the hand[J].J Hand Surg Eur Vol,2019,44(8):850-855.DOI:10.1177/1753193419845271.
[28] Boccara O,Ariche-Maman S,Hadj-Rabia S,et al.Verrucous hemangioma (also known as verrucous venous malformation):A vascular anomaly frequently misdiagnosed as a lymphatic malformation[J].Pediatr Dermatol,2018,35(6):e378-e381.DOI:10.1111/pde.13671.
[29] Couto JA,Vivero MP,Kozakewich HP,et al.A somatic MAP3K3 mutation is associated with verrucous venous malformation[J].Am J Hum Genet,2015,96(3):480-486.DOI:10.1016/j.ajhg.2015.01.007.
[30] Nguyen HL,Boon LM,Vikkula M.Vascular anomalies caused by abnormal signaling within endothelial cells:targets for novel therapies[J].Semin Intervent Radiol,2017,34(3):233-238.DOI:10.1055/s-0037-1604296.
[31] Zhang G,Chen H,Zhen Z,et al.Sirolimus for treatment of verrucous venous malformation:A retrospective cohort study[J].J Am Acad Dermatol,2019,80(2):556-558.DOI:10.1016/j.jaad.2018.07.014.
备注/Memo
收稿日期:2020-08-02。
基金项目:南京市卫生科技发展专项基金（YKK20134）
通讯作者:沈卫民,Email:swmswmswm@sina.com