Journal of vascular anomalies最新文献

{"title":"Size-dependent Nanoparticle Accumulation In Venous Malformations.","authors":"Kathleen Cullion, Claire A Ostertag-Hill, Weimin Tang, Michelle Pan, Daniel S Kohane","doi":"10.1097/JOVA.0000000000000103","DOIUrl":"10.1097/JOVA.0000000000000103","url":null,"abstract":"<p><strong>Objective: </strong>The current treatment of venous malformations (VMs) consists of medications with systemic toxicity and procedural interventions with high technical difficulty and risk of hemorrhage. Using nanoparticles (NPs) to enhance drug delivery to VMs could enhance efficacy and decrease systemic toxicity. NPs can accumulate in tissues with abnormal vasculature, a concept known as the enhanced permeation and retention (EPR) effect. EPR has been documented in tumors, bioengineered vessels, and VMs. However, in VMs, it is unknown if NP size affects EPR and if so, which particle size improves NP accumulation.</p><p><strong>Methods: </strong>In this study, we used a murine model of subcutaneous VMs using human umbilical vein endothelial cells that express the most frequent VM-causing tyrosine kinase with immunoglobulin and EGF homology domains mutation, tyrosine kinase with immunoglobulin and EGF homology domains-L914F. Hollow silica NPs coated in polyethylene glycol (PEG) and conjugated to a fluorophore were administered systemically via tail vein injection. We studied the accumulation of a range of NP sizes within the VM and organs using confocal microscopy and an in vivo imaging system.</p><p><strong>Results: </strong>The 20, 50, 80, and 180 nm PEGylated, fluorophore-tagged hollow silica NPs were spherical and had hydrodynamic diameters of 31.6 ± 0.9, 58.5 ± 0.1, 87.1 ± 2.4, and 232 ± 1.26 nm, respectively. Following systemic NP administration, 20 nm NPs had 2 times more fluorescence accumulation within VMs compared with 50 nm, and 6 times more fluorescence accumulation compared with larger (greater than 80 nm) NPs (<i>P</i> < .01).</p><p><strong>Conclusion: </strong>This study helps to determine the optimal NP size for passive accumulation within VMs and lays the foundation for engineering NPs for the treatment of VMs.</p>","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"5 4","pages":"e00103"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142904323","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":"Identifying Genetic Mutations in Vascular Anomalies Using a Sequencing Panel for Childhood Cancers: A Pilot Study","authors":"Elis Yuexian Lee, Y. Ang, C. Kuick, Y. Mok, Kenneth Tou En Chang, Luke Han Wei Toh, Mei Yoke Chan, Mark Jean Aan Koh","doi":"10.1097/jova.0000000000000094","DOIUrl":"https://doi.org/10.1097/jova.0000000000000094","url":null,"abstract":"\u0000 \u0000 Genetic mutations have been identified in the pathogenesis of vascular anomalies. Due to overlaps in genetic variants causing vascular anomalies and cancer, we used a next-generation sequencing panel for genomic profiling of childhood cancers to detect somatic mutations in children with vascular anomalies. We aim to review the utility of an oncology panel for the molecular diagnosis of vascular anomalies.\u0000 \u0000 \u0000 \u0000 Nine patients with histologically confirmed vascular anomalies were included. DNA was extracted from formalin-fixed paraffin-embedded tissue specimens obtained from affected tissue following diagnostic punch biopsies of the skin and core biopsies of the vascular malformation or tumor during sclerotherapy or surgical excision. Molecular analysis of the tissue samples was performed using AmpliSeq for Childhood Cancer DNA Assay Panel.\u0000 \u0000 \u0000 \u0000 Two patients had antenatally detected vascular anomalies. The median age at diagnosis for the remaining patients was 7.0 years (IQR, 0.6–10.0 years). Seven were diagnosed with vascular malformations, while 2 had vascular tumors. Pathological somatic mutations were identified in 4 patients, leading to a diagnostic yield of 44.4%. Two different PIK3CA mutations were identified in 3 cases: 1 in a case of macrocystic lymphatic malformation, the other in a case of Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevus, Spinal/Skeletal anomalies syndrome and Klippel–Trenaunay syndrome. BRAF mutation was identified in a patient with a veno-lymphatic malformation.\u0000 \u0000 \u0000 \u0000 An oncology next-generation sequencing panel can be used for genetic profiling of vascular anomalies. However, a more customized and sensitive panel may be of better diagnostic yield, as detection of somatic mutations in vascular anomalies is challenging due to tissue mosaicism, low-abundant genetic variants, and specimen limitations.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"13 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141690996","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":"Diagnostic Pitfalls: Soft Tissue Lymphoma: Superficial Soft Tissue Lymphoma Mimicking a Venous Malformation","authors":"Victoire Roblot, Valérie Bousson, Annouk Bisdorff","doi":"10.1097/jova.0000000000000095","DOIUrl":"https://doi.org/10.1097/jova.0000000000000095","url":null,"abstract":"In this case report, 3 patients addressed to our vascular anomalies reference center to manage a slow-flow vascular anomaly were reported. Our objective is to highlight that a discrepancy between clinical and radiological data should suggest a differential diagnosis and a percutaneous biopsy be considered. In our 3 patients, the biopsy provided a diagnosis of soft tissue lymphoma. Some red flags should not be overlooked to avoid missing this diagnosis, patient's past medical history of lymphoma and clinical palpation of a nondepressible hard lesion. On magnetic resonance imaging, the lesion shape and contours particularly the presence of spicules appear to be interesting features to consider lymphoma (this sign is absent in common venous malformation). Therefore, the triad past medical history and clinical and imaging data (ultrasound and MRI) are mandatory for an accurate diagnosis of vascular malformations.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"49 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141343791","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":"Multidisciplinary Fusion: A recurrent expansive prevertebral vascular anomaly with EWSR1::NFATC2 fusion","authors":"Samantha J. DeMarsh, Bradford Siegele, V. Zavaletta, A. Annam, Ann M. Kulungowski, Lauren R. Hill, Nathan Donaldson, Taizo A Nakano","doi":"10.1097/jova.0000000000000093","DOIUrl":"https://doi.org/10.1097/jova.0000000000000093","url":null,"abstract":"The field of vascular anomalies has seen a rapid paradigm shift from descriptive to molecular diagnoses, with DNA-based next-generation sequencing becoming standard practice in the workup and characterization of lesions. RNA-based panels for fusion transcripts have been less utilized in the field of vascular anomalies. We report a recurrent, infiltrative prevertebral vascular tumor negative for known somatic variants but positive for an Ewing sarcoma breakpoint region 1::nuclear factor of activated T-cells cytoplasmic 2 fusion transcript. This lesion demonstrated intermediate malignant potential with morphologic atypia, novel intraluminal endothelial growth, and atypical mitoses, which have not previously been reported. RNA-based panels for fusion transcripts may represent the next impactful evolution of molecular characterization of vascular malformations and tumors.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141348677","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 Lived Experience of Patients with Vascular Malformations: A Qualitative Meta-synthesis","authors":"Lauren R. S. Hill, Heather Coats","doi":"10.1097/jova.0000000000000091","DOIUrl":"https://doi.org/10.1097/jova.0000000000000091","url":null,"abstract":"\u0000 \u0000 The purpose of this study was to synthesize the existing qualitative literature on the lived experience of patients with vascular malformations to identify emergent themes and new areas for clinical care and research.\u0000 \u0000 \u0000 \u0000 A formal meta-synthesis was conducted, which followed 4 steps: (1) form the clinical question and refine search criteria; (2) complete a literature review following Preferred Reporting Items for Reviews and Meta-Analysis; (3) quality appraisal of included literature with Lett’s Critical Review Form; and (4) completion of team-based reciprocal translation and thematic analysis to synthesize the literature. PubMed, CINAHL, Johanna Briggs, and Embase were used to retrieve English language, peer-reviewed qualitative, and mixed-method articles from 1996 to May 2023.\u0000 \u0000 \u0000 \u0000 Six articles met the criteria for inclusion. A wide range of vascular malformations were represented, ranging from slow-flow malformation to high-flow or complex with associated overgrowth. Studies were conducted in the United States, France, and Germany, focusing mainly on the adult experience, with 1 article focusing solely on pediatrics. Three main themes emerged: social isolation, uncertainty and hope, and healthcare experiences.\u0000 \u0000 \u0000 \u0000 The overarching themes of social isolation, uncertainty and hope, and healthcare experiences each offer avenues to inform clinical practice, provide education for healthcare providers managing patients with vascular malformations, and future research to better understand how each of these themes affect patients. This qualitative meta-synthesis is a novel method for this field and provides new insights into the lived experience of those with vascular malformations.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"23 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140660092","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 Economic Consequences of Sirolimus Treatment in Patients With Vascular Malformations","authors":"Veroniek E. M. Harbers, W. Kievit, Raquel Duque Jimenez, Leo J. Schultze Kool, Ingrid M. P. van Rijnsoever, B. Verhoeven, C. V. D. van der Vleuten, D. M. W. M. te Loo","doi":"10.1097/jova.0000000000000092","DOIUrl":"https://doi.org/10.1097/jova.0000000000000092","url":null,"abstract":"\u0000 \u0000 Sirolimus is one of the first oral drugs for safe and effective treatment of patients with vascular malformations, and may save (expensive) interventions. Therefore the objective was to investigate the cost-effectiveness of sirolimus in vascular malformations.\u0000 \u0000 \u0000 \u0000 This cost-effectiveness analysis from a medical and societal perspective was performed alongside a clinical phase IIB effectiveness of sirolimus in patients with vascular malformations trial. Utility and quality-adjusted life years (QALY) were calculated using the short-form six-dimension in adults and pediatric quality of life inventory scores to express effectiveness in children. Total costs included medical and productivity costs. The net monetary benefit was calculated, given a range of willingness to pay (WTP) values within societies with nationalized health care.\u0000 \u0000 \u0000 \u0000 After 6 months on sirolimus, the pediatric quality of life inventory increased by a mean of 12.10 points (95% confidence interval [CI], 7.64–16.37) in children, and the QALY increased by 0.07 (95% CI, 0.03–0.11) in adults. After 6 months on sirolimus, total costs per child were numerically increased by €110.88 (95% CI, −€1786.17–€2165.95). Per adult, sirolimus resulted in a numerical decrease of mean total cost of €426.84 (95% CI, −€2831.38–€1414.60). In adults, there was a 95% chance that sirolimus treatment would be cost-effective with a WTP of €50k per QALY gained.\u0000 \u0000 \u0000 \u0000 This first pharmacoeconomic analysis shows a substantial improvement in utility and health-related quality of life due to sirolimus treatment in patients with vascular malformations. It shows a high chance that sirolimus will be cost-effective in adults within the limits of acceptable WTP values within societies with nationalized health care. In children, sirolimus may become cost-effective in the future due to a possible decrease in interventions.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"23 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140702131","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":"Large Medically Resistant Intramuscular Fast-Flow Vascular Anomaly in a Young Adult Patient Managed With Embolization and Cryoablation","authors":"Kristy Patel, Sean Schoeman, Anne Marie Cahill","doi":"10.1097/jova.0000000000000088","DOIUrl":"https://doi.org/10.1097/jova.0000000000000088","url":null,"abstract":"\u0000 \u0000 Mitogen-activated protein 2 kinase (MAP2K) intramuscular high-flow vascular anomaly is a benign vascular lesion, thought to be congenital, with an indolent course. Years after initial presentation, symptoms may manifest due to abrupt growth.\u0000 \u0000 \u0000 \u0000 This report describes a case of a young female who presented with a MAP2K high-flow vascular anomaly with recalcitrant pain, resistant to a trial of Sirolimus and Trametinib. Significant lesion size reduction and pain resolution were achieved with a combination of preablation embolization followed by cryoablation. Follow-up of 5 years informs lesion reduction and stability.\u0000 \u0000 \u0000 \u0000 Using a multi-method approach (embolization then ablation) can be considered in the treatment of MAP2K high-flow vascular malformations resistant to medical therapy.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"11 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140712343","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":"Infantile Hemangioma with Minimal or Arrested Growth: Different Clinical Presentations in a Retrospective Case Series","authors":"Jinia El-Feghaly, Molly Marous, Heidi Bai, M. Cordisco","doi":"10.1097/jova.0000000000000086","DOIUrl":"https://doi.org/10.1097/jova.0000000000000086","url":null,"abstract":"\u0000 \u0000 Infantile hemangioma with minimal or arrested growth (IHMAG) has been established as a subtype of infantile hemangioma (IH) due to positive glucose transporter-1 staining; however, it is clinically differentiated by a proliferative component of <25% of its total surface area. IHMAG can be misdiagnosed as a capillary malformation, an IH precursor, a noninvoluting congenital hemangioma, or an arteriovenous malformation among others. In this case series, we aim to further illustrate the various clinical characteristics of IHMAG and the features that distinguish this unique entity from the other vascular entities. It is important to recognize the differentiating characteristics to avoid unnecessary evaluation and provide patients with the appropriate management plan.\u0000 \u0000 \u0000 \u0000 A retrospective chart review approved by the University of Rochester Medical Center Institutional Review Board was performed from January 2014 to December 2020, with the search terms: “infantile hemangioma with arrested or minimal growth,” “IHMAG” and “abortive hemangioma.” In total, 29 IHMAGs were identified in 27 patients. Charts were reviewed for demographic and clinical characteristics as well as workup, response to treatment, and outcomes.\u0000 \u0000 \u0000 \u0000 In total, we identified 29 IHMAGs in 27 patients. Female to male ratio was 2:1. Average gestational age was 40 weeks. Lesions were present at birth in 22/27 patients. Out of the 29 IHMAGs, 18 were focal (62%) and 11 were segmental (38%). In most patients, skin examination revealed fine telangiectatic patches with focal areas of bright red papules. Out of 29 IHMAGs, 20 involved the lower body and 18 were focal, whereas 11 were segmental. PHACES syndrome (posterior fossa anomalies, infantile hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and midline skin defects) was identified in 2 of 2 patients with facial segmental IHMAGs. LUMBAR syndrome (lower body infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) was ruled out in 2 of 2 patients with extensive IHMAGs involving the sacral area. Semicircular lipoatrophy was seen in 1 patient with segmental circumferential IHMAG of the leg. Ultrasonography was the most used modality. Out of 27 infants, 18 were treated with topical timolol, 4 were treated with oral propranolol, and 2 patients were treated with a combination of both.\u0000 \u0000 \u0000 \u0000 Trends of the epidemiologic, clinical, and prognostic data of our 27 cases are in concordance with prior reports on IHMAG, further consolidating our understanding of this peculiar entity. IHMAG typically presents as a telangiectatic pink to violaceous patch present at birth in term newborns predominantly involving the lower half of the body. It is important to keep a high index of suspicion for the other vascular anomalies in the differential diagnosis. A segmental IHMAG should prompt providers to screen for ass","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"15 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140711898","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":"Psychometric Evaluation of the “Providing Validation” Measure in Vascular Anomalies","authors":"Bryan A. Sisk, Anna M. Kerr, Amy R. Newman, Dandan Chen, Jennifer W. Mack, B. Reeve","doi":"10.1097/jova.0000000000000089","DOIUrl":"https://doi.org/10.1097/jova.0000000000000089","url":null,"abstract":"We assessed the psychometric properties of the “providing validation” subscale of PedCOM measures for parents of children with vascular anomalies and adult patients. A total of 139 adult patients and 78 parents completed surveys. The mean score for patients was 3.7 (standard deviation 1.0), and for parents was 4.0 (standard deviation 0.9). “Providing validation” measures demonstrated high internal consistency and good model fit to a unidimensional model for both patients and parents using confirmatory factor analysis. The measures also demonstrated convergent validity with co-administered measures. This study demonstrated the validity of “providing validation” measures for parents and adult patients with vascular anomalies.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"98 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140755328","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":"Pediatric Neurotrophic Tyrosine Receptor Kinase-rearranged Neoplasm Resembling a Vascular Malformation","authors":"Mohammad Sadic, Alexander Hien Vu, Erol Bayraktar, Naomi Strubel, Sheel Sharma, Francine Blei, George Jour, Sandra Tomita","doi":"10.1097/jova.0000000000000090","DOIUrl":"https://doi.org/10.1097/jova.0000000000000090","url":null,"abstract":"Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"501 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140782471","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}