Somatic mutations in endothelial cells and cerebral vascular malformations
Cerebral vascular malformations(CVMs)are non-neoplastic lesions of local brain vasculature in which the quantity and structure of cerebral vessels are altered due to genetic,cytokine,and protein changes caused by various intrinsic and extrinsic factors during embryonic development.Somatic mutations in endothelial cells,as one of the initiating factors,play a crucial role in the occurrence and development of CVMs.Understanding the endothelial cell mutations in CVMs is of great significance for preventing CVMs occurrence and development,developing targeted drugs,and guiding clinical treatment.This review focuses on the discovery,clinical relevance,and potential therapeutic implications of endothelial cell somatic mutations in CVMs.
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