Genetic basis and therapies for vascular anomalies

A Queisser, E Seront, LM Boon, M Vikkula - Circulation research, 2021 - ahajournals.org
A Queisser, E Seront, LM Boon, M Vikkula
Circulation research, 2021ahajournals.org
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K
(phosphoinositide 3-kinase)/AKT (protein kinase B)/mTOR (mammalian target of rapamycin),
RAS (rat sarcoma)/RAF (rapidly accelerated fibrosarcoma)/MEK (mitogen-activated protein
kinase kinase)/ERK (extracellular signal-regulated kinases), HGF (hepatocyte growth
factor)/c-Met (hepatocyte growth factor receptor), and VEGF (vascular endothelial growth …
Vascular and lymphatic malformations represent a challenge for clinicians. The identification of inherited and somatic mutations in important signaling pathways, including the PI3K (phosphoinositide 3-kinase)/AKT (protein kinase B)/mTOR (mammalian target of rapamycin), RAS (rat sarcoma)/RAF (rapidly accelerated fibrosarcoma)/MEK (mitogen-activated protein kinase kinase)/ERK (extracellular signal-regulated kinases), HGF (hepatocyte growth factor)/c-Met (hepatocyte growth factor receptor), and VEGF (vascular endothelial growth factor) A/VEGFR (vascular endothelial growth factor receptor) 2 cascades has led to the evaluation of tailored strategies with preexisting cancer drugs that interfere with these signaling pathways. The era of theranostics has started for the treatment of vascular anomalies.
Registration
URL: https://www.clinicaltrialsregister.eu; Unique identifier: 2015-001703-32.
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