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Estimate of the Prevalence of Vascular Malformations 血管畸形患病率的估计
Pub Date : 2023-07-27 DOI: 10.1097/jova.0000000000000068
A. Penington, R. Phillips, Nerida Sleebs, J. Halliday
To estimate the prevalence of vascular malformations using retrospective data collected from 1999 to 2020 in a specialty vascular anomalies service. 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. 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. An updated estimate, more accurate than those previously published, of the prevalence of vascular malformations has been obtained.
利用从1999年到2020年收集的回顾性数据估计血管畸形的患病率。与皇家儿童医院相关的血管异常服务为成人和儿童提供参考服务,覆盖澳大利亚整个维多利亚州,该州人口670万,每年约有7万新生儿。一个患者数据库被询问,以确定那些在研究期间被诊断为血管畸形的服务,不包括毛细血管畸形。共发现1501例患者,其中慢流畸形1233例,动静脉畸形147例。流行率的计算方法是每年出生的接受服务的病例数加上估计尚未接受评估的病例数除以每年平均活产数。这是在一个选定的期间计算的,其中包括预期数字最稳定的年份。据估计,慢流畸形的患病率为千分之一。每10万新生儿中,个别病变的病例估计为:静脉畸形45例,淋巴畸形35例,肌肉内慢流畸形10例,复杂畸形(klipppel - trenaunay和CLOVES) 4例,肾小球静脉畸形5例,疣状静脉畸形2例。颅外动静脉畸形的患病率估计约为万分之一。一个更新的估计,比以前发表的更准确,血管畸形的患病率已经获得。
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引用次数: 0
Genotype–Phenotype and Genotype–Outcome Analysis of Capillary Malformation–Arteriovenous Malformation 毛细血管畸形-动静脉畸形的基因型-表型和基因型-转归分析
Pub Date : 2023-07-14 DOI: 10.1097/jova.0000000000000052
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
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. 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. 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. 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.
毛细血管畸形-动静脉畸形综合征(CM-AVM)是一种罕见的常染色体显性复杂血管疾病,可伴有快血流血管畸形(ffvm)。本研究的目的是通过对CM-AVM患者进行大规模平行测序,探讨基因型-表型和基因型-结局的相关性,以提高对FFVM的发展和危险因素的认识。这项多中心队列研究共纳入了117例cm - avm患者。所有患者都进行了详细的临床表型分析,包括年龄、性别、毛细血管畸形(CM)大小、有无FFVM和结果(Schobinger分期)。外周血和组织样本进行下一代测序。进行基因型-表型、基因型-结果和表型-结果分析。种系或镶嵌型RASA1变异是CM-AVM最常见的病因,占61.5%,EPHB4变异占32.5%。76.9%的患者CM病变大于5 CM。在这个队列中,基因型和表型(包括性别、年龄、位置和CMs大小)之间没有发现明显的相关性。将ffvm患者与非ffvm患者进行比较,我们发现年龄和显性CM病变大小存在显著差异,但基因型、性别或位置没有显著差异。CM-AVMs可归类为RAS/RAF/MEK通路中不同基因改变引起的复杂血管畸形。基因型与表型间无明显相关性。关键的是,FFVM的发生和进展在很大程度上取决于表型,包括年龄和显性CM的大小,而不是基因型。
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引用次数: 0
ISSVA World Congress 2022: The Latest in Vascular Anomalies ISSVA世界大会2022:血管异常的最新进展
Pub Date : 2023-06-01 DOI: 10.1097/jova.0000000000000066
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引用次数: 0
The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations. VASCERN-VASCA工作组静脉畸形的诊断和管理途径。
Pub Date : 2023-06-01 DOI: 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/).

制定专家共识的患者路径,指导患者和医生对静脉畸形患者进行有效的诊断和管理。方法:VASCERN-VASCA (https://vascern.eu/)是欧洲血管异常多学科中心网络。采用标称组技术建立神经通路。确定了两位主持人:一位提出初步讨论点并绘制路径,另一位主持讨论。一位皮肤科医生(AD)因其特殊的临床和研究经验而被选为第一位主持人。该草案随后在VASCERN-VASCA每月虚拟会议和年度面对面会议上进行了讨论。结果:该路径从临床怀疑静脉型畸形(VM)开始,列出临床特征来寻找支持这一怀疑。建议后续影像学和组织病理学的策略。这些目的是为诊断提供信息,并将患者分为4种亚型:(1)散发的单个vm或(2)多灶性vm,(3)家族性,多灶性vm和(4)合并和/或综合征性vm。每种类型的管理在路径的后续页面中详细介绍,这些页面用颜色编码来识别(1)临床评估,(2)调查,(3)治疗和(4)相关基因。与所有类型相关的操作在单独的框中进行了标记,包括建议进行成像的操作。当获得明确的诊断时,该途径还指向特定疾病的额外调查和随访建议。讨论了每个亚型的治疗选择,包括保守和侵入性治疗,以及新的分子治疗。结论:VASCERN-VASCA(一个由9个专家中心组成的网络)的共同努力,已经形成了共识的vm诊断和管理途径,以帮助临床医生和患者。它还强调了多学科专家中心在VM患者管理中的作用。该路径将在VASCERN网站(http://vascern.eu/)上提供。
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引用次数: 0
RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS) RAND/UCLA关于pik3ca相关谱系障碍(PROS)的严重程度、检测和医疗管理的修正德尔菲小组
Pub Date : 2023-05-31 DOI: 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.
在虚拟会议之前,217个病人场景中的突变和药物治疗。小组成员讨论了存在分歧的领域,并在会议结束后完成了评分。结果:专家组制定了临床表现,并认可了由功能损害、生活质量下降和死亡风险定义的疾病严重程度框架。小组成员一致认为,在每个中度/重度感染患者中检测PIK3CA基因变异是合适的。小组成员一致认为,在一些严重影响患者和一些中度影响的进行性疾病患者中,考虑雷帕霉素抑制剂的哺乳动物(机制)靶点可能是合适的。尽管临床试验最近才开始,证据仍然有限,但专家小组成员也同意,对于确诊PIK3CA变异或未确诊PIK3CA变异但疾病进展的严重患者,考虑使用磷酸肌苷3-激酶/丝氨酸/苏氨酸蛋白激酶抑制剂治疗可能是合适的。结论:这些建议代表了专家根据已发表的文献和经验得出的共识。未来的研究应该使用临床数据来验证这一指导。一旦得到验证,我们希望这些建议能够改善PROS患者的预后。
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引用次数: 0
Plasma Cell-Free DNA After Embolization 栓塞后血浆无细胞DNA
Pub Date : 2023-02-28 DOI: 10.1097/jova.0000000000000054
Yi Sun, R. Cai, Zhenfeng Wang, Deming Wang, Xiong Zhao, Xiaojie Yue, H. Gu, Hao Shi, Yun Liu, X. Fan, Li-xin Su
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引用次数: 0
Sirolimus Early Treatment in Vascular Anomalies Leads to a Better Response 西罗莫司早期治疗血管异常疗效更好
Pub Date : 2023-02-03 DOI: 10.1097/jova.0000000000000065
P. Triana, J. Díez-Sebastián, L. Rodríguez-Laguna, V. Martínez-Glez, J. López-Gutiérrez
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引用次数: 0
MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition 斑马鱼内皮细胞MAP2K1突变导致MEK抑制可预防动静脉分流
Pub Date : 2023-02-02 DOI: 10.1097/jova.0000000000000063
Christopher L. Sudduth, Nicola Blum, P. Smits, Yu-Sheng Cheng, M. Vivero, M. Harris, N. Lawson, A. Greene
{"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}
引用次数: 0
A Dynamic Web-based Application for the Classification of Vascular Anomalies 基于web的血管异常分类动态应用
Pub Date : 2023-01-13 DOI: 10.1097/jova.0000000000000059
Aiden S. Taghinia, Daniel M Balkin
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引用次数: 0
Detection of NRAS Mutation in Kaposiform Lymphangiomatosis Using Cell-free DNA from Plasma 血浆游离DNA检测卡波西样淋巴管瘤NRAS突变
Pub Date : 2023-01-05 DOI: 10.1097/jova.0000000000000062
Fiona Lynch, Veronika Dvorakova, Alan D. Irvine
Kaposiform lymphangiomatosis is a rare lymphatic anomaly that occurs in children and is associated with life-threatening complications. The somatic mutation NRAS Q61R (c.182A>G) has been identified in lesional tissue samples of patients with kaposiform lymphangiomatosis, and can be used to differentiate this condition from other complex lymphatic anomalies and to guide treatment. Tissue sampling in this lymphatic anomaly is inherently risky due to its involvement of thoracic and abdominal organs and associated coagulopathy. Analysis of cell-free DNA isolated from blood plasma presents a promising noninvasive diagnostic strategy. Here, we describe the use of this approach using a commercial assay.
卡波西样淋巴管瘤病是一种罕见的淋巴异常,发生在儿童中,并与危及生命的并发症有关。体细胞突变NRAS Q61R (c.182A>G)已在卡氏样淋巴管瘤病患者的病变组织样本中被发现,可用于将该疾病与其他复杂淋巴异常区分开来,并指导治疗。淋巴异常的组织取样本身就有风险,因为它累及胸部和腹部器官以及相关的凝血病。分析从血浆中分离的无细胞DNA是一种很有前途的无创诊断策略。在这里,我们描述使用这种方法使用商业化验。
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引用次数: 0
期刊
Journal of vascular anomalies
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