Pub Date : 2023-06-01DOI: 10.1097/JOVA.0000000000000064
Anne Dompmartin, Eulalia Baselga, Laurence M Boon, Andrea Diociaiuti, Veronika Dvorakova, May El Hachem, Paolo Gasparella, Emir Haxhija, Nader Ghaffarpour, Kristiina Kyrklund, Alan D Irvine, Friedrich G Kapp, Jochen Rößler, Päivi Salminen, Caroline van den Bosch, Carine van der Vleuten, Leo Schultze Kool, Miikka Vikkula
To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations.
Methods: VASCERN-VASCA (https://vascern.eu/) is a European network of multidisciplinary centers for Vascular Anomalies. The Nominal Group Technique was used to establish the pathways. Two facilitators were identified: one to propose initial discussion points and draw the pathways, and another to chair the discussion. A dermatologist (AD) was chosen as first facilitator due to her specific clinical and research experience. The draft was subsequently discussed within VASCERN-VASCA monthly virtual meetings and annual face-to-face meetings.
Results: The Pathway starts from the clinical suspicion of a venous type malformation (VM) and lists the clinical characteristics to look for to support this suspicion. Strategies for subsequent imaging and histopathology are suggested. These aim to inform on the diagnosis and to separate the patients into 4 subtypes: (1) sporadic single VMs or (2) multifocal, (3) familial, multifocal, and (4) combined and/or syndromic VMs. The management of each type is detailed in subsequent pages of the pathway, which are color coded to identify sections on (1) clinical evaluations, (2) investigations, (3) treatments, and (4) associated genes. Actions relevant to all types are marked in separate boxes, including when imaging is recommended. When definite diagnoses have been reached, the pathway also points toward disease-specific additional investigations and recommendations for follow up. Options for management are discussed for each subtype, including conservative and invasive treatments, as well as novel molecular therapies.
Conclusion: The collaborative efforts of VASCERN-VASCA, a network of the 9 Expert Centers, has led to a consensus Diagnostic and Management Pathways for VMs to assist clinicians and patients. It also emphasizes the role of multidisciplinary expert centers in the management of VM patients. This pathway will become available on the VASCERN website (http://vascern.eu/).
{"title":"The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.","authors":"Anne Dompmartin, Eulalia Baselga, Laurence M Boon, Andrea Diociaiuti, Veronika Dvorakova, May El Hachem, Paolo Gasparella, Emir Haxhija, Nader Ghaffarpour, Kristiina Kyrklund, Alan D Irvine, Friedrich G Kapp, Jochen Rößler, Päivi Salminen, Caroline van den Bosch, Carine van der Vleuten, Leo Schultze Kool, Miikka Vikkula","doi":"10.1097/JOVA.0000000000000064","DOIUrl":"https://doi.org/10.1097/JOVA.0000000000000064","url":null,"abstract":"<p><p>To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations.</p><p><strong>Methods: </strong>VASCERN-VASCA (https://vascern.eu/) is a European network of multidisciplinary centers for Vascular Anomalies. The Nominal Group Technique was used to establish the pathways. Two facilitators were identified: one to propose initial discussion points and draw the pathways, and another to chair the discussion. A dermatologist (AD) was chosen as first facilitator due to her specific clinical and research experience. The draft was subsequently discussed within VASCERN-VASCA monthly virtual meetings and annual face-to-face meetings.</p><p><strong>Results: </strong>The Pathway starts from the clinical suspicion of a venous type malformation (VM) and lists the clinical characteristics to look for to support this suspicion. Strategies for subsequent imaging and histopathology are suggested. These aim to inform on the diagnosis and to separate the patients into 4 subtypes: (1) sporadic single VMs or (2) multifocal, (3) familial, multifocal, and (4) combined and/or syndromic VMs. The management of each type is detailed in subsequent pages of the pathway, which are color coded to identify sections on (1) clinical evaluations, (2) investigations, (3) treatments, and (4) associated genes. Actions relevant to all types are marked in separate boxes, including when imaging is recommended. When definite diagnoses have been reached, the pathway also points toward disease-specific additional investigations and recommendations for follow up. Options for management are discussed for each subtype, including conservative and invasive treatments, as well as novel molecular therapies.</p><p><strong>Conclusion: </strong>The collaborative efforts of VASCERN-VASCA, a network of the 9 Expert Centers, has led to a consensus Diagnostic and Management Pathways for VMs to assist clinicians and patients. It also emphasizes the role of multidisciplinary expert centers in the management of VM patients. This pathway will become available on the VASCERN website (http://vascern.eu/).</p>","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10035947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-31DOI: 10.1097/jova.0000000000000067
M. Broder, D. Adams, G. Canaud, Christy Collins, Kristen Davis, I. Frieden, S. Gibbs, A. Hammill, K. Keppler-Noreuil, Taizo A Nakano, Anthony Penington, S. Srivastava, M. Tollefson, M. Warman
mutation and medical therapy in 217 patient scenarios before a virtual meeting. Panelists discussed areas of disagreement and completed ratings following the meeting. Results: The panel developed clinical presentations and endorsed the disease severity framework defined by functional impairment, a reduction in quality of life, and risk of death. Panelists agreed it is appropriate to test for a PIK3CA gene variant in every mod-erately/severely affected patient. Panelists agreed it may be appropriate to consider an mammalian (mechanistic) target of rapamycin inhibitor in some severely affected patients and some moderately affected patients with progressive disease. Although clinical trials have only recently begun and the evidence remains limited, panelists also agreed it may be appropriate to consider treatment with phosphoinositide 3-kinase/serine/threonine protein kinase inhibitors in severely affected patients with a confirmed PIK3CA variant or without a confirmed variant but with progressive disease. Conclusion: These recommendations represent the consensus of experts informed by published literature and experience. Future research should validate this guidance using clinical data. Once validated, we hope these recommendations will improve outcomes for patients with PROS.
{"title":"RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS)","authors":"M. Broder, D. Adams, G. Canaud, Christy Collins, Kristen Davis, I. Frieden, S. Gibbs, A. Hammill, K. Keppler-Noreuil, Taizo A Nakano, Anthony Penington, S. Srivastava, M. Tollefson, M. Warman","doi":"10.1097/jova.0000000000000067","DOIUrl":"https://doi.org/10.1097/jova.0000000000000067","url":null,"abstract":"mutation and medical therapy in 217 patient scenarios before a virtual meeting. Panelists discussed areas of disagreement and completed ratings following the meeting. Results: The panel developed clinical presentations and endorsed the disease severity framework defined by functional impairment, a reduction in quality of life, and risk of death. Panelists agreed it is appropriate to test for a PIK3CA gene variant in every mod-erately/severely affected patient. Panelists agreed it may be appropriate to consider an mammalian (mechanistic) target of rapamycin inhibitor in some severely affected patients and some moderately affected patients with progressive disease. Although clinical trials have only recently begun and the evidence remains limited, panelists also agreed it may be appropriate to consider treatment with phosphoinositide 3-kinase/serine/threonine protein kinase inhibitors in severely affected patients with a confirmed PIK3CA variant or without a confirmed variant but with progressive disease. Conclusion: These recommendations represent the consensus of experts informed by published literature and experience. Future research should validate this guidance using clinical data. Once validated, we hope these recommendations will improve outcomes for patients with PROS.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88050505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-03DOI: 10.1097/jova.0000000000000065
P. Triana, J. Díez-Sebastián, L. Rodríguez-Laguna, V. Martínez-Glez, J. López-Gutiérrez
{"title":"Sirolimus Early Treatment in Vascular Anomalies Leads to a Better Response","authors":"P. Triana, J. Díez-Sebastián, L. Rodríguez-Laguna, V. Martínez-Glez, J. López-Gutiérrez","doi":"10.1097/jova.0000000000000065","DOIUrl":"https://doi.org/10.1097/jova.0000000000000065","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88627864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-13DOI: 10.1097/jova.0000000000000059
Aiden S. Taghinia, Daniel M Balkin
{"title":"A Dynamic Web-based Application for the Classification of Vascular Anomalies","authors":"Aiden S. Taghinia, Daniel M Balkin","doi":"10.1097/jova.0000000000000059","DOIUrl":"https://doi.org/10.1097/jova.0000000000000059","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73480919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-02DOI: 10.1097/jova.0000000000000061
Angela Kadenhe-Chiweshe, Michael Baad, Shipra Kaicker, Susan Mathew, Bradley Pua, Shaun Steigman, Catherine McGuinn
Generalized lymphatic anomaly (GLA) is a morbid condition with few treatment options. Cure is currently not possible, and therefore, treatment is aimed at symptom relief, improving function, and slowing the progression of disease. Despite a recent explosion of knowledge in identifying the underlying pathogenic pathways that are involved in these disease processes, the genetic and biologic pathways underlying and driving these disorders remain poorly understood. Next-generation sequencing provides a unique tool that can help to unveil mutations in driver pathways expanding the use of targeted therapies. Here, we report the novel discovery of a ROS1 fusion protein, ROS1:PPFIBP1 in an adolescent with GLA. While ROS1 fusion proteins have been shown to be drivers of disease in various adult and pediatric cancers, they have not been previously reported in vascular anomalies. This discovery provides a basis for potential additional treatment options with recently Food and Drug Administration-approved ROS1 inhibitors.
{"title":"Novel Discovery of ROS1:PPFIBP1 fusion protein in General Lymphatic Anomaly","authors":"Angela Kadenhe-Chiweshe, Michael Baad, Shipra Kaicker, Susan Mathew, Bradley Pua, Shaun Steigman, Catherine McGuinn","doi":"10.1097/jova.0000000000000061","DOIUrl":"https://doi.org/10.1097/jova.0000000000000061","url":null,"abstract":"Generalized lymphatic anomaly (GLA) is a morbid condition with few treatment options. Cure is currently not possible, and therefore, treatment is aimed at symptom relief, improving function, and slowing the progression of disease. Despite a recent explosion of knowledge in identifying the underlying pathogenic pathways that are involved in these disease processes, the genetic and biologic pathways underlying and driving these disorders remain poorly understood. Next-generation sequencing provides a unique tool that can help to unveil mutations in driver pathways expanding the use of targeted therapies. Here, we report the novel discovery of a ROS1 fusion protein, ROS1:PPFIBP1 in an adolescent with GLA. While ROS1 fusion proteins have been shown to be drivers of disease in various adult and pediatric cancers, they have not been previously reported in vascular anomalies. This discovery provides a basis for potential additional treatment options with recently Food and Drug Administration-approved ROS1 inhibitors.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135799667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-23DOI: 10.1097/jova.0000000000000053
M. Cordisco, Jinia El-Feghaly, J. Prezzano, Agustina Lanöel, Natalia Torres, Susana Persico, F. Requejo, S. Sierre, M. Fiandrino, Laura Luna, Maria Fernanda Maccario, P. Brouillard, M. Vikkula
See Related Tests Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a disorder of the vascular system characterized by enlarged capillaries that appear as small, round dots on the skin. Some affected individuals also have fastow vascular anomalies, including arteriovenous malformations (AVMs) or arteriovenous stulas (AVFs) in the skin, muscle, bone, spine, or brain. These lesions may cause life-threatening complications such as bleeding, congestive heart failure, or neurological consequences. Additional manifestations include lymphatic abnormalities, recurrent epistaxis (CM-AVM2), dermal telangiectasias (CM-AVM2), and bier spots (CM-AVM2). Genetic testing can con rm diagnosis of RASA1 -related CM-AVM disorder (CM-AVM1) or EPHB4 -related CM-AVM disorder (CM-AVM2) in individuals with clinical ndings suggestive of CM-AVM.
{"title":"Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis","authors":"M. Cordisco, Jinia El-Feghaly, J. Prezzano, Agustina Lanöel, Natalia Torres, Susana Persico, F. Requejo, S. Sierre, M. Fiandrino, Laura Luna, Maria Fernanda Maccario, P. Brouillard, M. Vikkula","doi":"10.1097/jova.0000000000000053","DOIUrl":"https://doi.org/10.1097/jova.0000000000000053","url":null,"abstract":"See Related Tests Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a disorder of the vascular system characterized by enlarged capillaries that appear as small, round dots on the skin. Some affected individuals also have fastow vascular anomalies, including arteriovenous malformations (AVMs) or arteriovenous stulas (AVFs) in the skin, muscle, bone, spine, or brain. These lesions may cause life-threatening complications such as bleeding, congestive heart failure, or neurological consequences. Additional manifestations include lymphatic abnormalities, recurrent epistaxis (CM-AVM2), dermal telangiectasias (CM-AVM2), and bier spots (CM-AVM2). Genetic testing can con rm diagnosis of RASA1 -related CM-AVM disorder (CM-AVM1) or EPHB4 -related CM-AVM disorder (CM-AVM2) in individuals with clinical ndings suggestive of CM-AVM.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84455382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-23DOI: 10.1097/jova.0000000000000056
G. Colletti, R. Nocini, Linda Rozell-Shannon, L. Chiarini, A. Anesi, M. Dessy
{"title":"Intraoperative Ultrasound-Guided Resection for Extracranial Arteriovenous Malformations of the Head and Neck","authors":"G. Colletti, R. Nocini, Linda Rozell-Shannon, L. Chiarini, A. Anesi, M. Dessy","doi":"10.1097/jova.0000000000000056","DOIUrl":"https://doi.org/10.1097/jova.0000000000000056","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90091108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-02DOI: 10.1097/jova.0000000000000051
Liam Gallagher, Vivek C. Pandrangi, C. MacArthur
{"title":"Large Cervicofacial Vascular Anomaly, a Difficult Case","authors":"Liam Gallagher, Vivek C. Pandrangi, C. MacArthur","doi":"10.1097/jova.0000000000000051","DOIUrl":"https://doi.org/10.1097/jova.0000000000000051","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89581488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-10-25DOI: 10.1097/jova.0000000000000050
N. Banyi, Sahdev Baweja, Young Ji Tuen, M. Bucevska, J. Arneja
{"title":"Characterization of the Conversion of Meeting Presentation to Publication From the 2016 and 2018 ISSVA Workshops","authors":"N. Banyi, Sahdev Baweja, Young Ji Tuen, M. Bucevska, J. Arneja","doi":"10.1097/jova.0000000000000050","DOIUrl":"https://doi.org/10.1097/jova.0000000000000050","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84565632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-30DOI: 10.1097/jova.0000000000000049
A. Gong, Adham Khalil, C. Weiss
{"title":"Clinical Emergence of Low-flow Vascular Malformations After Vaccination Against SARS-CoV-2: A Case Series","authors":"A. Gong, Adham Khalil, C. Weiss","doi":"10.1097/jova.0000000000000049","DOIUrl":"https://doi.org/10.1097/jova.0000000000000049","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86254060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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