Journal of vascular anomalies最新文献

{"title":"Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions.","authors":"Averill Clapp,&nbsp;Carrie J Shawber,&nbsp;June K Wu","doi":"10.1097/JOVA.0000000000000069","DOIUrl":"https://doi.org/10.1097/JOVA.0000000000000069","url":null,"abstract":"<p><strong>Background: </strong>Slow-flow vascular malformations include venous, lymphatic, and lymphaticovenous malformations. Recent studies have linked genetic variants hyperactivating either the PI3K/AKT/mTOR and/or RAS/RAF/MAPK signaling pathways with slow-flow vascular malformation development, leading to the use of pharmacotherapies such as sirolimus and alpelisib. It is important that clinicians understand basic and translational research advances in slow-flow vascular malformations.</p><p><strong>Methods: </strong>A literature review of basic science publications in slow-flow vascular malformations was performed on Pubmed, using search terms \"venous malformation,\" \"lymphatic malformation,\" \"lymphaticovenous malformation,\" \"genetic variant,\" \"genetic mutation,\" \"endothelial cells,\" and \"animal model.\" Relevant publications were reviewed and summarized.</p><p><strong>Results: </strong>The study of patient tissues and the use of primary pathogenic endothelial cells from vascular malformations shed light on their pathological behaviors, such as endothelial cell hyperproliferation and disruptions in vessel architecture. The use of xenograft and transgenic animal models confirmed the pathogenicity of genetic variants and allowed for preclinical testing of potential therapies. These discoveries underscore the importance of basic and translational research in understanding the pathophysiology of vascular malformations, which will allow for the development of improved biologically targeted treatments.</p><p><strong>Conclusion: </strong>Despite basic and translation advances, a cure for slow-flow vascular malformations remains elusive. Many questions remain unanswered, including how genotype variants result in phenotypes, and genotype-phenotype heterogeneity. Continued research into venous and lymphatic malformation pathobiology is critical in understanding the mechanisms by which genetic variants contribute to vascular malformation phenotypic features.</p>","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"4 3","pages":"e069"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9d/56/jv9-4-e069.PMC10473035.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10158198","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}

{"title":"Estimate of the Prevalence of Vascular Malformations","authors":"A. Penington, R. Phillips, Nerida Sleebs, J. Halliday","doi":"10.1097/jova.0000000000000068","DOIUrl":"https://doi.org/10.1097/jova.0000000000000068","url":null,"abstract":"\u0000 \u0000 To estimate the prevalence of vascular malformations using retrospective data collected from 1999 to 2020 in a specialty vascular anomalies service.\u0000 \u0000 \u0000 \u0000 The vascular anomalies service associated with the Royal Children’s Hospital provides a reference service to both adults and children, covering the entire state of Victoria, Australia, which has a population of 6.7 million and around 70,000 births per year. A database of patients was interrogated to identify those treated by the service over the study period with a diagnosis of vascular malformation, excluding capillary malformations. A total of 1501 patients were identified, including 1233 with slow-flow malformations and 147 with arteriovenous malformations. Prevalence was calculated as the number of cases born per year who attended the service plus those estimated as yet to attend for assessment, divided by the average number of live births each year. This was calculated for a selected period comprising the years when the numbers were expected to be most stable.\u0000 \u0000 \u0000 \u0000 The prevalence of slow-flow malformations is estimated to be 1 case per thousand livebirths. Approximate estimates of cases per 100,000 births for individual lesions are: venous malformation 45, lymphatic malformation 35, intramuscular slow-flow malformation 10, complex malformations (Klippel-Trenaunay and CLOVES) 4, glomuvenous malformation 5, and verrucous venous malformation 2. The prevalence of extracranial arteriovenous malformation is estimated to be around one case per 10,000 population.\u0000 \u0000 \u0000 \u0000 An updated estimate, more accurate than those previously published, of the prevalence of vascular malformations has been obtained.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88034805","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}

{"title":"Genotype–Phenotype and Genotype–Outcome Analysis of Capillary Malformation–Arteriovenous Malformation","authors":"Yi Sun, Li-xin Su, YunJie Zhang, Zhenfeng Wang, Shijie Chen, H. Gu, Xiaojie Yue, Xiong Zhao, Xi-tao Yang, Deming Wang, X. Fan, R. Cai","doi":"10.1097/jova.0000000000000052","DOIUrl":"https://doi.org/10.1097/jova.0000000000000052","url":null,"abstract":"\u0000 \u0000 Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal-dominant complex vascular disorder that can be associated with fast-flow vascular malformations (FFVMs). The purpose of this study is to explore the genotype–phenotype and genotype–outcome associations based on a large parallel sequencing of CM-AVM patients to improve the understanding of the development and risk factors for FFVM.\u0000 \u0000 \u0000 \u0000 A total of 117 patients with CM-AVMs were enrolled in this multicenter cohort study. All patients underwent detailed clinical phenotyping, including age, sex, capillary malformation (CM) size, with or without FFVM, and outcome (Schobinger stage). Next-generation sequencing was performed with peripheral blood and tissue samples. Genotype–phenotype, genotype–outcome, and phenotype–outcome analyses were performed.\u0000 \u0000 \u0000 \u0000 Germline or mosaic RASA1 variants were the most common cause of CM-AVM, found in 61.5%, with EPHB4 variants in 32.5%. A total of 76.9% of patients had a dominant CM lesion larger than 5 cm. No obvious correlations between genotypes and phenotypes, including sex, age, location, and size of CMs, were found in this cohort. Comparing the patients with FFVMs with those without FFVMs, we found significant differences in age and the size of dominant CM lesions but not in genotype, sex, or location.\u0000 \u0000 \u0000 \u0000 CM-AVMs can be categorized as complex vascular malformations caused by different gene alterations in the RAS/RAF/MEK pathway. No obvious correlations between genotypes and phenotypes were identified. Critically, the occurrence and progression of FFVM is strongly determined by phenotypes, including age and the size of the dominant CM, rather than genotypes.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89149256","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}

{"title":"ISSVA World Congress 2022: The Latest in Vascular Anomalies","authors":"","doi":"10.1097/jova.0000000000000066","DOIUrl":"https://doi.org/10.1097/jova.0000000000000066","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74304711","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}

{"title":"The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.","authors":"Anne Dompmartin,&nbsp;Eulalia Baselga,&nbsp;Laurence M Boon,&nbsp;Andrea Diociaiuti,&nbsp;Veronika Dvorakova,&nbsp;May El Hachem,&nbsp;Paolo Gasparella,&nbsp;Emir Haxhija,&nbsp;Nader Ghaffarpour,&nbsp;Kristiina Kyrklund,&nbsp;Alan D Irvine,&nbsp;Friedrich G Kapp,&nbsp;Jochen Rößler,&nbsp;Päivi Salminen,&nbsp;Caroline van den Bosch,&nbsp;Carine van der Vleuten,&nbsp;Leo Schultze Kool,&nbsp;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":"4 2","pages":"e064"},"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}

{"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":"34 1","pages":""},"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}

{"title":"Plasma Cell-Free DNA After Embolization","authors":"Yi Sun, R. Cai, Zhenfeng Wang, Deming Wang, Xiong Zhao, Xiaojie Yue, H. Gu, Hao Shi, Yun Liu, X. Fan, Li-xin Su","doi":"10.1097/jova.0000000000000054","DOIUrl":"https://doi.org/10.1097/jova.0000000000000054","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83167821","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}

{"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":"1 1","pages":""},"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}

{"title":"MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition","authors":"Christopher L. Sudduth, Nicola Blum, P. Smits, Yu-Sheng Cheng, M. Vivero, M. Harris, N. Lawson, A. Greene","doi":"10.1097/jova.0000000000000063","DOIUrl":"https://doi.org/10.1097/jova.0000000000000063","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72879057","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}

{"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":"109 1","pages":""},"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}