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  • Title: Etiology and Genetics of Congenital Vascular Lesions.
    Author: Queisser A, Boon LM, Vikkula M.
    Journal: Otolaryngol Clin North Am; 2018 Feb; 51(1):41-53. PubMed ID: 29217067.
    Abstract:
    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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