Etiology and Genetics of Congenital Vascular Lesions
(2018) Otolaryngologic Clinics of North America — Vol. 51, n° 1, p. 41-53 (2018)
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- 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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Citations
Queisser, A., Boon, L., & Vikkula, M. (2018). Etiology and Genetics of Congenital Vascular Lesions. Otolaryngologic Clinics of North America, 51(1), 41-53. https://doi.org/10.1016/j.otc.2017.09.006 (Original work published 2018)