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":"23 1","pages":"0"},"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 : 2022-12-28DOI: 10.1097/jova.0000000000000055
S. Thompson, Erica M. Knavel Koepsel, G. Powell, E. Bendel, H. Bjarnason, Stephanie F Polites, D. Adamo, Desirae L. Howe-Clayton, C. Favazza, A. Lu, K. Anderson, M. Tollefson, D. Woodrum
{"title":"Prospective Observational Study of Pain Severity and Pain Interference Outcomes Following Percutaneous MRI-guided Laser Ablation or Cryoablation for Focal Painful Peripheral, Soft Tissue Vascular Malformations: 12-month Outcomes","authors":"S. Thompson, Erica M. Knavel Koepsel, G. Powell, E. Bendel, H. Bjarnason, Stephanie F Polites, D. Adamo, Desirae L. Howe-Clayton, C. Favazza, A. Lu, K. Anderson, M. Tollefson, D. Woodrum","doi":"10.1097/jova.0000000000000055","DOIUrl":"https://doi.org/10.1097/jova.0000000000000055","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88953722","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 : 2022-12-01DOI: 10.1097/jova.0000000000000060
N. Engel-Nitz, C. Martin, S. Balu, I. Frieden, A. Anderson, A. Belland, M. L. Paul
{"title":"Evaluation of Treatment Patterns and Outcomes of Patients With PIK3CA-related Overgrowth Spectrum","authors":"N. Engel-Nitz, C. Martin, S. Balu, I. Frieden, A. Anderson, A. Belland, M. L. Paul","doi":"10.1097/jova.0000000000000060","DOIUrl":"https://doi.org/10.1097/jova.0000000000000060","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85032327","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":"33 1","pages":""},"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":"1 1","pages":""},"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":"42 1","pages":""},"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":"31 1","pages":""},"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":"98 1","pages":""},"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}
Pub Date : 2022-09-22DOI: 10.1097/jova.0000000000000048
Lydia Pathman, Jodie Simpson, A. Penington, R. Phillips
{"title":"Evaluating the Use of Atenolol for the Treatment of Infantile Hemangiomas","authors":"Lydia Pathman, Jodie Simpson, A. Penington, R. Phillips","doi":"10.1097/jova.0000000000000048","DOIUrl":"https://doi.org/10.1097/jova.0000000000000048","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78547033","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 : 2022-08-26DOI: 10.1097/jova.0000000000000047
Lucy Y. Liu, MICHAEL JING‐REN Jeng, Joyce M. C. Teng
{"title":"Inhibiting PI3K and MAPK Pathways","authors":"Lucy Y. Liu, MICHAEL JING‐REN Jeng, Joyce M. C. Teng","doi":"10.1097/jova.0000000000000047","DOIUrl":"https://doi.org/10.1097/jova.0000000000000047","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91157695","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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