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Article

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

Journal of vascular surgery. Venous and lymphatic disorders - 1 May 2021

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

Abstract excerpt

OBJECTIVE: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32858245
DOI: 10.1016/j.jvsv.2020.07.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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