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

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,...
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Autor*in:	Young Lim, PhD [verfasserIn] Arash Fereydooni, MD, MS [verfasserIn] Anand Brahmandam, MD [verfasserIn] Alan Dardik, MD, PhD [verfasserIn] Keith Choate, MD, PhD [verfasserIn] Naiem Nassiri, MD [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	CLOVES syndrome Marginal veins PIK3CA Coil embolization

Übergeordnetes Werk:	In: Journal of Vascular Surgery Cases and Innovative Techniques - Elsevier, 2017, 6(2020), 3, Seite 438-442
Übergeordnetes Werk:	volume:6 ; year:2020 ; number:3 ; pages:438-442

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1016/j.jvscit.2020.05.013

Katalog-ID:	DOAJ04368646X

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allfields	10.1016/j.jvscit.2020.05.013 doi (DE-627)DOAJ04368646X (DE-599)DOAJ87c5d5ccf3564b3fa6083d4996d7d70e DE-627 ger DE-627 rakwb eng RD1-811 RC666-701 Young Lim, PhD verfasserin aut Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. CLOVES syndrome Marginal veins PIK3CA Coil embolization Surgery Diseases of the circulatory (Cardiovascular) system Arash Fereydooni, MD, MS verfasserin aut Anand Brahmandam, MD verfasserin aut Alan Dardik, MD, PhD verfasserin aut Keith Choate, MD, PhD verfasserin aut Naiem Nassiri, MD verfasserin aut In Journal of Vascular Surgery Cases and Innovative Techniques Elsevier, 2017 6(2020), 3, Seite 438-442 (DE-627)1022255908 (DE-600)2929584-1 24684287 nnns volume:6 year:2020 number:3 pages:438-442 https://doi.org/10.1016/j.jvscit.2020.05.013 kostenfrei https://doaj.org/article/87c5d5ccf3564b3fa6083d4996d7d70e kostenfrei http://www.sciencedirect.com/science/article/pii/S246842872030085X kostenfrei https://doaj.org/toc/2468-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 6 2020 3 438-442
spelling	10.1016/j.jvscit.2020.05.013 doi (DE-627)DOAJ04368646X (DE-599)DOAJ87c5d5ccf3564b3fa6083d4996d7d70e DE-627 ger DE-627 rakwb eng RD1-811 RC666-701 Young Lim, PhD verfasserin aut Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. CLOVES syndrome Marginal veins PIK3CA Coil embolization Surgery Diseases of the circulatory (Cardiovascular) system Arash Fereydooni, MD, MS verfasserin aut Anand Brahmandam, MD verfasserin aut Alan Dardik, MD, PhD verfasserin aut Keith Choate, MD, PhD verfasserin aut Naiem Nassiri, MD verfasserin aut In Journal of Vascular Surgery Cases and Innovative Techniques Elsevier, 2017 6(2020), 3, Seite 438-442 (DE-627)1022255908 (DE-600)2929584-1 24684287 nnns volume:6 year:2020 number:3 pages:438-442 https://doi.org/10.1016/j.jvscit.2020.05.013 kostenfrei https://doaj.org/article/87c5d5ccf3564b3fa6083d4996d7d70e kostenfrei http://www.sciencedirect.com/science/article/pii/S246842872030085X kostenfrei https://doaj.org/toc/2468-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 6 2020 3 438-442
allfields_unstemmed	10.1016/j.jvscit.2020.05.013 doi (DE-627)DOAJ04368646X (DE-599)DOAJ87c5d5ccf3564b3fa6083d4996d7d70e DE-627 ger DE-627 rakwb eng RD1-811 RC666-701 Young Lim, PhD verfasserin aut Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. CLOVES syndrome Marginal veins PIK3CA Coil embolization Surgery Diseases of the circulatory (Cardiovascular) system Arash Fereydooni, MD, MS verfasserin aut Anand Brahmandam, MD verfasserin aut Alan Dardik, MD, PhD verfasserin aut Keith Choate, MD, PhD verfasserin aut Naiem Nassiri, MD verfasserin aut In Journal of Vascular Surgery Cases and Innovative Techniques Elsevier, 2017 6(2020), 3, Seite 438-442 (DE-627)1022255908 (DE-600)2929584-1 24684287 nnns volume:6 year:2020 number:3 pages:438-442 https://doi.org/10.1016/j.jvscit.2020.05.013 kostenfrei https://doaj.org/article/87c5d5ccf3564b3fa6083d4996d7d70e kostenfrei http://www.sciencedirect.com/science/article/pii/S246842872030085X kostenfrei https://doaj.org/toc/2468-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 6 2020 3 438-442
allfieldsGer	10.1016/j.jvscit.2020.05.013 doi (DE-627)DOAJ04368646X (DE-599)DOAJ87c5d5ccf3564b3fa6083d4996d7d70e DE-627 ger DE-627 rakwb eng RD1-811 RC666-701 Young Lim, PhD verfasserin aut Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. CLOVES syndrome Marginal veins PIK3CA Coil embolization Surgery Diseases of the circulatory (Cardiovascular) system Arash Fereydooni, MD, MS verfasserin aut Anand Brahmandam, MD verfasserin aut Alan Dardik, MD, PhD verfasserin aut Keith Choate, MD, PhD verfasserin aut Naiem Nassiri, MD verfasserin aut In Journal of Vascular Surgery Cases and Innovative Techniques Elsevier, 2017 6(2020), 3, Seite 438-442 (DE-627)1022255908 (DE-600)2929584-1 24684287 nnns volume:6 year:2020 number:3 pages:438-442 https://doi.org/10.1016/j.jvscit.2020.05.013 kostenfrei https://doaj.org/article/87c5d5ccf3564b3fa6083d4996d7d70e kostenfrei http://www.sciencedirect.com/science/article/pii/S246842872030085X kostenfrei https://doaj.org/toc/2468-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 6 2020 3 438-442
allfieldsSound	10.1016/j.jvscit.2020.05.013 doi (DE-627)DOAJ04368646X (DE-599)DOAJ87c5d5ccf3564b3fa6083d4996d7d70e DE-627 ger DE-627 rakwb eng RD1-811 RC666-701 Young Lim, PhD verfasserin aut Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. CLOVES syndrome Marginal veins PIK3CA Coil embolization Surgery Diseases of the circulatory (Cardiovascular) system Arash Fereydooni, MD, MS verfasserin aut Anand Brahmandam, MD verfasserin aut Alan Dardik, MD, PhD verfasserin aut Keith Choate, MD, PhD verfasserin aut Naiem Nassiri, MD verfasserin aut In Journal of Vascular Surgery Cases and Innovative Techniques Elsevier, 2017 6(2020), 3, Seite 438-442 (DE-627)1022255908 (DE-600)2929584-1 24684287 nnns volume:6 year:2020 number:3 pages:438-442 https://doi.org/10.1016/j.jvscit.2020.05.013 kostenfrei https://doaj.org/article/87c5d5ccf3564b3fa6083d4996d7d70e kostenfrei http://www.sciencedirect.com/science/article/pii/S246842872030085X kostenfrei https://doaj.org/toc/2468-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 6 2020 3 438-442
language	English
source	In Journal of Vascular Surgery Cases and Innovative Techniques 6(2020), 3, Seite 438-442 volume:6 year:2020 number:3 pages:438-442
sourceStr	In Journal of Vascular Surgery Cases and Innovative Techniques 6(2020), 3, Seite 438-442 volume:6 year:2020 number:3 pages:438-442
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	CLOVES syndrome Marginal veins PIK3CA Coil embolization Surgery Diseases of the circulatory (Cardiovascular) system
isfreeaccess_bool	true
container_title	Journal of Vascular Surgery Cases and Innovative Techniques
authorswithroles_txt_mv	Young Lim, PhD @@aut@@ Arash Fereydooni, MD, MS @@aut@@ Anand Brahmandam, MD @@aut@@ Alan Dardik, MD, PhD @@aut@@ Keith Choate, MD, PhD @@aut@@ Naiem Nassiri, MD @@aut@@
publishDateDaySort_date	2020-01-01T00:00:00Z
hierarchy_top_id	1022255908
id	DOAJ04368646X
language_de	englisch
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callnumber-first	R - Medicine
author	Young Lim, PhD
spellingShingle	Young Lim, PhD misc RD1-811 misc RC666-701 misc CLOVES syndrome misc Marginal veins misc PIK3CA misc Coil embolization misc Surgery misc Diseases of the circulatory (Cardiovascular) system 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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topic_title	RD1-811 RC666-701 Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation CLOVES syndrome Marginal veins PIK3CA Coil embolization
topic	misc RD1-811 misc RC666-701 misc CLOVES syndrome misc Marginal veins misc PIK3CA misc Coil embolization misc Surgery misc Diseases of the circulatory (Cardiovascular) system
topic_unstemmed	misc RD1-811 misc RC666-701 misc CLOVES syndrome misc Marginal veins misc PIK3CA misc Coil embolization misc Surgery misc Diseases of the circulatory (Cardiovascular) system
topic_browse	misc RD1-811 misc RC666-701 misc CLOVES syndrome misc Marginal veins misc PIK3CA misc Coil embolization misc Surgery misc Diseases of the circulatory (Cardiovascular) system
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title	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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title_full	Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation
author_sort	Young Lim, PhD
journal	Journal of Vascular Surgery Cases and Innovative Techniques
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author_browse	Young Lim, PhD Arash Fereydooni, MD, MS Anand Brahmandam, MD Alan Dardik, MD, PhD Keith Choate, MD, PhD Naiem Nassiri, MD
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doi_str_mv	10.1016/j.jvscit.2020.05.013
author2-role	verfasserin
title_sort	mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in cloves syndrome identifies pik3ca as the culprit gene mutation
callnumber	RD1-811
title_auth	Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation
abstract	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.
abstractGer	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.
abstract_unstemmed	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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title_short	Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation
url	https://doi.org/10.1016/j.jvscit.2020.05.013 https://doaj.org/article/87c5d5ccf3564b3fa6083d4996d7d70e http://www.sciencedirect.com/science/article/pii/S246842872030085X https://doaj.org/toc/2468-4287
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author2	Arash Fereydooni, MD, MS Anand Brahmandam, MD Alan Dardik, MD, PhD Keith Choate, MD, PhD Naiem Nassiri, MD
author2Str	Arash Fereydooni, MD, MS Anand Brahmandam, MD Alan Dardik, MD, PhD Keith Choate, MD, PhD Naiem Nassiri, MD
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up_date	2024-07-03T18:55:04.908Z
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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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