Genetic Basis and Therapies for Vascular Anomalies

被引：96

作者：

Queisser, Angela ^{[1
]}

Seront, Emmanuel ^{[2
,3
,5
]}

Boon, Laurence M. ^{[1
,2
,5
]}

Vikkula, Miikka ^{[1
,2
,4
,5
]}

机构：

[1] Univ Louvain, Human Mol Genet, de Duve Inst, Ave Hippocrate 74 5,Bp 75-39, B-1200 Brussels, Belgium

[2] Clin Univ St Luc Brussels, Div Plast Surg, Ctr Vasc Anomalies, Brussels, Belgium

[3] Clin Univ St Luc, Dept Med Oncol, Inst Roi Albert 2, Brussels, Belgium

[4] Univ Louvain, Walloon Excellence Life Sci & Biotechnol WELBIO, Brussels, Belgium

[5] Clin Univ St Luc, VAS CERN VASCA European Reference Ctr, Brussels, Belgium

来源：

CIRCULATION RESEARCH | 2021年 / 129卷 / 01期

关键词：

endothelium; mutation; precision medicine; sirolimus; thalidomide; HEREDITARY HEMORRHAGIC TELANGIECTASIA; CEREBRAL CAVERNOUS MALFORMATION; PULSED DYE-LASER; VENOUS MALFORMATION; TOPICAL RAPAMYCIN; SOMATIC MUTATION; CONGENITAL HEMANGIOMA; PROTEIN INTERACTIONS; ACTIVATING MUTATION; GERMLINE MUTATIONS;

D O I：

10.1161/CIRCRESAHA.121.318145

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Vascular and lymphatic malformations represent a challenge for clinicians. The identification of inherited and somatic mutations in important signaling pathways, including the PI3K (phosphoinositide 3-kinase)/AKT (protein kinase B)/mTOR (mammalian target of rapamycin), RAS (rat sarcoma)/RAF (rapidly accelerated fibrosarcoma)/MEK (mitogen-activated protein kinase kinase)/ERK (extracellular signal-regulated kinases), HGF (hepatocyte growth factor)/c-Met (hepatocyte growth factor receptor), and VEGF (vascular endothelial growth factor) A/VEGFR (vascular endothelial growth factor receptor) 2 cascades has led to the evaluation of tailored strategies with preexisting cancer drugs that interfere with these signaling pathways. The era of theranostics has started for the treatment of vascular anomalies.

引用

页码：155 / 173

页数：19

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