Cellular and molecular mechanisms of PIK3CA-related vascular anomalies
The phosphoinositide 3-kinase (PI3K) pathway is a major mediator of growth factor signaling, cell proliferation and metabolism. Somatic gain-of-function mutations in PIK3CA, the catalytic subunit of PI3K, have recently been discovered in a number of vascular anomalies. The timing and origin of these...
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Bioscientifica
2019-06-01
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doaj-b60078ec21d04d9b8c6304ffc2d65d8e2020-11-25T01:41:52ZengBioscientificaVascular Biology2516-56582516-56582019-06-0111H33H40https://doi.org/10.1530/VB-19-0016Cellular and molecular mechanisms of PIK3CA-related vascular anomaliesTimothy D Le Cras0Elisa Boscolo1Division of Pulmonary Biology, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children’s Hospital, Cincinnati, Ohio, USAExperimental Hematology and Cancer Biology, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children’s Hospital, Cincinnati, Ohio, USAThe phosphoinositide 3-kinase (PI3K) pathway is a major mediator of growth factor signaling, cell proliferation and metabolism. Somatic gain-of-function mutations in PIK3CA, the catalytic subunit of PI3K, have recently been discovered in a number of vascular anomalies. The timing and origin of these mutations remain unclear although they are believed to occur during embryogenesis. The cellular origin of these lesions likely involves endothelial cells or an early endothelial cell lineage. This review will cover the diseases and syndromes associated with PIK3CA mutations and discuss the cellular origin, pathways and mechanisms. Activating PIK3CA ‘hot spot’ mutations have long been associated with a multitude of cancers allowing the development of targeted pharmacological inhibitors that are FDA-approved or in clinical trials. Current and future therapeutic approaches for PIK3CA-related vascular anomalies are discussed.https://vb.bioscientifica.com/view/journals/vb/1/1/VB-19-0016.xmlvascular malformationvascular anomalies |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Timothy D Le Cras Elisa Boscolo |
spellingShingle |
Timothy D Le Cras Elisa Boscolo Cellular and molecular mechanisms of PIK3CA-related vascular anomalies Vascular Biology vascular malformation vascular anomalies |
author_facet |
Timothy D Le Cras Elisa Boscolo |
author_sort |
Timothy D Le Cras |
title |
Cellular and molecular mechanisms of PIK3CA-related vascular anomalies |
title_short |
Cellular and molecular mechanisms of PIK3CA-related vascular anomalies |
title_full |
Cellular and molecular mechanisms of PIK3CA-related vascular anomalies |
title_fullStr |
Cellular and molecular mechanisms of PIK3CA-related vascular anomalies |
title_full_unstemmed |
Cellular and molecular mechanisms of PIK3CA-related vascular anomalies |
title_sort |
cellular and molecular mechanisms of pik3ca-related vascular anomalies |
publisher |
Bioscientifica |
series |
Vascular Biology |
issn |
2516-5658 2516-5658 |
publishDate |
2019-06-01 |
description |
The phosphoinositide 3-kinase (PI3K) pathway is a major mediator of growth factor signaling, cell proliferation and metabolism. Somatic gain-of-function mutations in PIK3CA, the catalytic subunit of PI3K, have recently been discovered in a number of vascular anomalies. The timing and origin of these mutations remain unclear although they are believed to occur during embryogenesis. The cellular origin of these lesions likely involves endothelial cells or an early endothelial cell lineage. This review will cover the diseases and syndromes associated with PIK3CA mutations and discuss the cellular origin, pathways and mechanisms. Activating PIK3CA ‘hot spot’ mutations have long been associated with a multitude of cancers allowing the development of targeted pharmacological inhibitors that are FDA-approved or in clinical trials. Current and future therapeutic approaches for PIK3CA-related vascular anomalies are discussed. |
topic |
vascular malformation vascular anomalies |
url |
https://vb.bioscientifica.com/view/journals/vb/1/1/VB-19-0016.xml |
work_keys_str_mv |
AT timothydlecras cellularandmolecularmechanismsofpik3carelatedvascularanomalies AT elisaboscolo cellularandmolecularmechanismsofpik3carelatedvascularanomalies |
_version_ |
1725039206668959744 |