Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation
© 2020 The Author(s)..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:6 |
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| Enthalten in: |
Journal of vascular surgery cases and innovative techniques - 6(2020), 3 vom: 25. Sept., Seite 438-442 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Lim, Young [VerfasserIn] |
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| Links: |
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| Themen: |
CLOVES syndrome |
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| Anmerkungen: |
Date Revised 20.09.2021 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1016/j.jvscit.2020.05.013 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM313507856 |
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| 245 | 1 | 0 | |a Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation |
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| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © 2020 The Author(s). | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a CLOVES syndrome | |
| 650 | 4 | |a Coil embolization | |
| 650 | 4 | |a Marginal veins | |
| 650 | 4 | |a PIK3CA | |
| 700 | 1 | |a Fereydooni, Arash |e verfasserin |4 aut | |
| 700 | 1 | |a Brahmandam, Anand |e verfasserin |4 aut | |
| 700 | 1 | |a Dardik, Alan |e verfasserin |4 aut | |
| 700 | 1 | |a Choate, Keith |e verfasserin |4 aut | |
| 700 | 1 | |a Nassiri, Naiem |e verfasserin |4 aut | |
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