Genetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation

Rose, Aubrey; Cathey, Sara

doi:10.1016/j.det.2022.07.002

Cited by 2 publications

(1 citation statement)

References 47 publications

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“…Somatic GOF PIK3CA mutations is a driver of various types of vascular malformations (VMs). Vascular malformations (VMs) are a group of defects in the formation of blood vessels and are classified into lymphatic, capillary, venous, and arteriovenous malformations [186][187][188][189]. These can further be divided into simple, complex, and syndromic VMs based on their vessel composition [188,190,191].…”

Section: Somatic Gof Pik3ca Mutations Are Genetic Drivers For Vascula...mentioning

confidence: 99%

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Zhang

Croft

2023

JPM

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Cerebral cavernous malformations (CCMs) are abnormally dilated intracranial capillaries that form cerebrovascular lesions with a high risk of hemorrhagic stroke. Recently, several somatic “activating” gain-of-function (GOF) point mutations in PIK3CA (phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit p110α) were discovered as a dominant mutation in the lesions of sporadic forms of cerebral cavernous malformation (sCCM), raising the possibility that CCMs, like other types of vascular malformations, fall in the PIK3CA-related overgrowth spectrum (PROS). However, this possibility has been challenged with different interpretations. In this review, we will continue our efforts to expound the phenomenon of the coexistence of gain-of-function (GOF) point mutations in the PIK3CA gene and loss-of-function (LOF) mutations in CCM genes in the CCM lesions of sCCM and try to delineate the relationship between mutagenic events with CCM lesions in a temporospatial manner. Since GOF PIK3CA point mutations have been well studied in reproductive cancers, especially breast cancer as a driver oncogene, we will perform a comparative meta-analysis for GOF PIK3CA point mutations in an attempt to demonstrate the genetic similarities shared by both cancers and vascular anomalies.

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Section: Somatic Gof Pik3ca Mutations Are Genetic Drivers For Vascula...mentioning

confidence: 99%

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Zhang

Croft

2023

JPM

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show abstract

Update December 2022

Blei¹

2022

Lymphatic Research and Biology

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Genetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation

Cited by 2 publications

References 47 publications

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Update December 2022

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