Molecular changes associated with vascular malformations

Fereydooni, Arash; Dardik, Alan; Nassiri, Naiem

doi:10.1016/j.jvs.2018.12.033

Cited by 32 publications

(34 citation statements)

References 63 publications

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“…This observation suggests that these veins are most likely anomalous because of the same underlying gene mutation that causes the malformations and related overgrowth syndrome, namely, a somatic gain of function in PIK3CA , rather than noninvoluting embryonic remnants. 14 Therefore, we suggest the term anomalous marginal vein as more appropriate nomenclature for these subdermal venous entities.…”

Section: Discussionmentioning

confidence: 99%

Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation

Lim

Fereydooni

Brahmandam

et al. 2020

Journal of Vascular Surgery Cases, Innovations and Techniques

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Anomalous marginal veins of the trunk or extremities are congenitally incompetent entities found in association with phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal deformities (CLOVES) syndrome. When present, they can be a major source of venous hypertension-related morbidity and potentially lethal thromboembolic events. Herein, we describe a rare case of an upper extremity marginal vein in a patient with CLOVES syndrome. Through a multimodal therapeutic approach, we identified a somatic PIK3CA mutation in the excised anomalous vein. This finding questions the validity of commonly employed terminology, such as persistent embryonic vein, in reference to these anomalous entities.

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Section: Discussionmentioning

confidence: 99%

Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation

Lim

Fereydooni

Brahmandam

et al. 2020

Journal of Vascular Surgery Cases, Innovations and Techniques

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“…1). [3][4][5] A gain-offunction somatic mutation in TEK leads to the overexpression of receptor tyrosine kinase TIE2, which is expressed on venous endothelial cells, resulting in dysplasia of the basement mem-brane and endothelium. While only seen in 25% of sporadic VMs, a somatic mutation in PIK3CA leads to unregulated activation of PI3K, which affects cell proliferation, migration, and survival.…”

Section: Pathogenesis and Clinical Presentationmentioning

confidence: 99%

Management of Venous Malformations

Acord

Srinivasan

2021

Semin intervent Radiol

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Venous malformations (VMs) are slow-flow, congenital vascular anomalies that are a result of vascular dysgenesis. Clinical presentation and morbidity depend on size, location, and association with other syndromes. VMs are the most common symptomatic vascular anomaly referred for intervention, usually due to thrombosis, swelling, mass effect, functional compromise, or cosmetic concerns. Treatment for larger lesions can be challenging and a multidisciplinary approach involving medical, interventional, and surgical input is critical for comprehensive care. This article will assist the interventional radiologist in patient assessment and will discuss current techniques for treatment, means to minimize adverse events, and expected outcomes.

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“…Sirolimus (Huber et al, 2007;Wang et al, 2019) directly impairs lymphatic drainage trough VEGF-C/VEGFR-3 signaling, leading to stasis of extravasated tissue fluid and macromolecules (Gharbi et al, 2014). To such an extent that sirolimus is used to treat lymphatic malformations related to PI3K/AKT/mTOR upregulation (Fereydooni, Dardik, & Nassiri, 2019). In a review of 26 cases, the time from sirolimus initiation to lymphedema onset ranged from 1 to 30 months (Rashid-Farokhi & Afshar, 2017).…”

Section: Mtor Inhibitorsmentioning

confidence: 99%

Drug-induced peripheral edema: an etiology-based review

Largeau

Cracowski

Lengell

et al. 2020

Preprint

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Many drugs are responsible, through different mechanisms, for peripheral edema. Severity is highly variable ranging from slight edema of the lower limbs to anasarca pictures as in the capillary leak syndrome. Although most often non-inflammatory and bilateral, some drugs are associated with peripheral edema that is readily erythematous (e.g., dopaminergic agonists, pemetrexed) or unilateral (e.g., sirolimus). Thus, drug-induced peripheral edema is underrecognized and misdiagnosed, frequently leading to a prescribing cascade. Four main mechanisms are involved, namely precapillary arteriolar vasodilation (vasodilatory edema), sodium/water retention (renal edema), lymphatic insufficiency (lymphedema) and increased capillary permeability (permeability edema). The underlying mechanism has significant impact on treatment efficacy. This review provides a comprehensive analysis of the main causative drugs by illustrating each pathophysiological mechanism and their management through an example of drug.

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Molecular changes associated with vascular malformations

Cited by 32 publications

References 63 publications

Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation

Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation

Management of Venous Malformations

Drug-induced peripheral edema: an etiology-based review

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