ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- Renal vein thrombosis as a reversible vascular renal complication of CLOVES syndrome: a case report.CEN case reports · 2026Article
- Molecular substratification of endometrial carcinomas with no special molecular profile (NSMP) by using a limited NGS custom panel may facilitate effective patient selection for the PIK3CA-targeted therapy.Virchows Archiv : an international journal of pathology · 2025Article
- Pulmonary artery mass with PIK3CA mutation after orthotopic heart transplantation.Journal of cardiothoracic surgery · 2024Article
- Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant.Cureus · 2024Article
- Quantification of Proteus syndrome-associated lung disease.Orphanet journal of rare diseases · 2024Article
- Article
- LncRNA MSTRG.22719.16 mediates the reduction of enoxaparin sodium high-viscosity bone cement-induced thrombosis by targeting the ocu-miR-326-5p/CD40 axis.Journal of orthopaedic surgery and research · 2023Article
- Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review.Children (Basel, Switzerland) · 2023Review
- Gastrointestinal Manifestations of CLOVES Syndrome.ACG case reports journal · 2023Article
- ProfilingGenetics in medicine open · 2023Article
- Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.Annals of the American Thoracic Society · 2022Article
- The mechanism by which enoxaparin sodium-high-viscosity bone cement reduces thrombosis by regulating CD40 expression in endothelial cells.BMC musculoskeletal disorders · 2022Article
- A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clinical genetics · 2022Review
- Proteus syndrome in pregnancy: A case report.Obstetric medicine · 2021Article
- Deep vein thrombosis in the setting of Klippel-Trenaunay syndrome and sirolimus treatment.Journal of vascular surgery cases and innovative techniques · 2021Article
- Immature teratoma in an adolescent with Proteus syndrome: A novel association.Clinical case reports · 2021Article
- Cardiothoracic imaging findings of Proteus syndrome.Scientific reports · 2021Article
- Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.American journal of medical genetics. Part A · 2020Article
- Overgrowth syndromes and new therapies.Seminars in pediatric surgery · 2020Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth spectrum (PROS), including Klippel-Trenaunay syndrome and CLOVES syndrome. PS and PROS have distinct, yet overlapping clinical findings and are caused by somatic pathogenic variants in the PI3K/AKT gene signaling pathway. PS is caused by a single somatic activating AKT1 c.49G > A p.E17K variant while PROS can be caused one of multiple variants in PIK3CA. The role of prothrombotic factors, endothelial cell adhesion molecules, and vascular malformations in both PS and PROS have not been previously investigated. A pilot study of prospective clinical and laboratory evaluations with the purposes of identifying potential risk factors for thrombosis was conducted. Doppler ultrasounds and magnetic resonance angiogram/ venography (MRA/MRV) scans identified vascular malformations in PS and PROS that were not appreciated on physical examination. Abnormal D-dimers (0.60-2.0 mcg/ml) occurred in half of individuals, many having vascular malformations, but no thromboses. Soluble vascular endothelial markers, including thrombomodulin, soluble vascular adhesion molecule (sVCAM), soluble intercellular adhesion molecule (sICAM), E-selectin, and P-selectin were significantly higher in PS and PROS compared to controls. However, no single attribute was identified that explained the risk of thrombosis. Predisposition to thrombosis is likely multifactorial with risk factors including chronic stasis within vascular malformations, stasis from impaired mobility (e.g., following surgery), decreased anticoagulant proteins, and effects of AKT1 and PIK3CA variants on vascular endothelium. Based on our findings, we propose clinical recommendations for surveillance of thrombosis in PS and PROS.
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