Etiology and Genetics of Congenital Vascular Lesions

Publication date: February 2018
Source:Otolaryngologic Clinics of North America, Volume 51, Issue 1
Author(s): Angela Queisser, Laurence M. Boon, Miikka Vikkula

Teaser

The detection of somatic, activating genetic mutations to underlie development of vascular tumors and malformations led to a better understanding of their pathophysiology. Proteins encoded by the detected mutated genes activate the two major signaling pathways, also involved in cancer: the RAS/MAPK/ERK pathway and/or the PI3K/AKT/mTOR pathway. This gives a strong basis for studies to repurpose cancer therapeutics to patients with vascular tumors and malformations.


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