METsomatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy

Autor: Palmieri, Maria, Di Sarno, Laura, Tommasi, Andrea, Currò, Aurora, Doddato, Gabriella, Baldassarri, Margherita, Frullanti, Elisa, Giliberti, Annarita, Fallerini, Chiara, Arzini, Aldo, Pinto, Annamaria, Vaghi, Massimo, Renieri, Alessandra
Zdroj: Journal of Vascular Surgery: Venous and Lymphatic Disorders; May 2021, Vol. 9 Issue: 3 p740-744, 5p
Abstrakt: Germline mutations of either the endothelial cell-specific tyrosine kinase receptor TIE2 or the glomulin (GLMN) gene are responsible for rare inherited venous malformations. Both genes affect the hepatocyte growth factor receptor c-Met, inducing vascular smooth muscle cell migration. Germline mutations of hepatocyte growth factor are responsible for lymphatic malformations, leading to lymphedema. The molecular alteration leading to the abnormal mixed vascular anomaly defined as lymphovenous malformation has remained unknown.
Databáze: Supplemental Index
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