Pub Date : 2022-03-01DOI: 10.1097/jova.0000000000000038
Prashant Raghavendran, S. Albers, J. D. Phillips, Sara Zarnegar-Lumley, Alexandra J. Borst
Objective: The goal of this report is to describe, through a series of 5 cases, the clinical response and safety of alpelisib (BYL719) use in children and adults with PIK3CA-related overgrowth spectrum (PROS) disorders at our center. Methods: We reviewed clinical records of 5 patients from October 2019 through September 2021 followed by the pediatric hematology and multidisciplinary vascular anomalies teams at the Monroe Carell Jr. Children’s Hospital at Vanderbilt (MCJCHV). All patients carried a clinical or genetic diagnosis of PROS and were treated with alpelisib provided by a Novartis managed access program. Results: We highlight improvement in reported symptoms, objective overgrowth measurements, and quality of life to varying degrees in all patients. We note dose-dependent hyperglycemia and gastrointestinal side effects in 2 of the 5 patients. No patients experienced any serious side effects. Conclusion: This case series reports on the real-world use of PI3K-α inhibition in the management of PROS. Ongoing clinical trials will provide efficacy and safety data as these drugs become more widely used in patients with vascular anomalies and syndromes secondary to somatic PIK3CA mutations.
{"title":"Clinical Response to PI3K-α Inhibition in a Cohort of Children and Adults With PIK3CA-Related Overgrowth Spectrum Disorders","authors":"Prashant Raghavendran, S. Albers, J. D. Phillips, Sara Zarnegar-Lumley, Alexandra J. Borst","doi":"10.1097/jova.0000000000000038","DOIUrl":"https://doi.org/10.1097/jova.0000000000000038","url":null,"abstract":"Objective: The goal of this report is to describe, through a series of 5 cases, the clinical response and safety of alpelisib (BYL719) use in children and adults with PIK3CA-related overgrowth spectrum (PROS) disorders at our center. Methods: We reviewed clinical records of 5 patients from October 2019 through September 2021 followed by the pediatric hematology and multidisciplinary vascular anomalies teams at the Monroe Carell Jr. Children’s Hospital at Vanderbilt (MCJCHV). All patients carried a clinical or genetic diagnosis of PROS and were treated with alpelisib provided by a Novartis managed access program. Results: We highlight improvement in reported symptoms, objective overgrowth measurements, and quality of life to varying degrees in all patients. We note dose-dependent hyperglycemia and gastrointestinal side effects in 2 of the 5 patients. No patients experienced any serious side effects. Conclusion: This case series reports on the real-world use of PI3K-α inhibition in the management of PROS. Ongoing clinical trials will provide efficacy and safety data as these drugs become more widely used in patients with vascular anomalies and syndromes secondary to somatic PIK3CA mutations.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"37 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86966290","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 : 2022-03-01DOI: 10.1097/jova.0000000000000034
V. Ayyappan, Elizabeth Gonzalez, Émilie Pichette, Harisa Spahic, Stacy Guzman
{"title":"Spotlighting the Zebras: A Role for Medical Students in Shaping Rare Disease Care","authors":"V. Ayyappan, Elizabeth Gonzalez, Émilie Pichette, Harisa Spahic, Stacy Guzman","doi":"10.1097/jova.0000000000000034","DOIUrl":"https://doi.org/10.1097/jova.0000000000000034","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"136 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76812138","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 : 2022-03-01DOI: 10.1097/jova.0000000000000035
Nancy Wang, Jacqueline E Harris, R. Durand, Isabelle C. Le Leannec, Lan Vu, I. Frieden, K. Rosbe, Josephine A. Czechowicz
{"title":"Prenatally Diagnosed Lymphatic Malformations of the Head and Neck","authors":"Nancy Wang, Jacqueline E Harris, R. Durand, Isabelle C. Le Leannec, Lan Vu, I. Frieden, K. Rosbe, Josephine A. Czechowicz","doi":"10.1097/jova.0000000000000035","DOIUrl":"https://doi.org/10.1097/jova.0000000000000035","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"103 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88979764","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 : 2022-03-01DOI: 10.1097/jova.0000000000000036
I. Iacobas, Mallika Singh, M. Finger, Lisa K. Klepper, F. Blei
{"title":"Survey of Adult Patients With Vascular Anomalies Reveals Acute Need of Adult Hematologists-Oncologists to Enter the Field","authors":"I. Iacobas, Mallika Singh, M. Finger, Lisa K. Klepper, F. Blei","doi":"10.1097/jova.0000000000000036","DOIUrl":"https://doi.org/10.1097/jova.0000000000000036","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75837805","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 : 2022-01-13DOI: 10.1097/jova.0000000000000033
Lydia Pathman, A. Dompmartin, A. Coquerel, S. Robertson, R. Phillips
{"title":"Unexplained Infant Deaths While on Propranolol for Treatment of Infantile Hemangiomas","authors":"Lydia Pathman, A. Dompmartin, A. Coquerel, S. Robertson, R. Phillips","doi":"10.1097/jova.0000000000000033","DOIUrl":"https://doi.org/10.1097/jova.0000000000000033","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77480667","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 : 2021-12-17DOI: 10.1097/jova.0000000000000031
Shivani Mitra, Daniel Shen, S. Afshar
{"title":"Assessing the Dental and Oral Health Needs at Vascular Anomalies Centers Across the United States","authors":"Shivani Mitra, Daniel Shen, S. Afshar","doi":"10.1097/jova.0000000000000031","DOIUrl":"https://doi.org/10.1097/jova.0000000000000031","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83145959","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 : 2021-12-15DOI: 10.1097/jova.0000000000000032
R. Das, Alexandra J. Borst, J. D. Phillips
{"title":"Cleft Palate and Vascular Malformation in a Pediatric Patient With PIK3CA-related Overgrowth Spectrum","authors":"R. Das, Alexandra J. Borst, J. D. Phillips","doi":"10.1097/jova.0000000000000032","DOIUrl":"https://doi.org/10.1097/jova.0000000000000032","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"52 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83964412","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 : 2021-12-01DOI: 10.1097/jova.0000000000000017
Claudine Laaengh Massoni, C. Laurian, N. Paraskevas, P. Cerceau, F. Lemarchand-Venencie, O. Boccara, D. Salvan, B. Faucon, N. Le Clerc, M. Borsik, A. Aymard, V. Civelli, E. Houdart, A. Bisdorff-Bresson
{"title":"The Role of Manual Compression in Doppler Ultrasound Mapping of Arteriovenous Vascular Malformations in the Upper and Lower Extremities","authors":"Claudine Laaengh Massoni, C. Laurian, N. Paraskevas, P. Cerceau, F. Lemarchand-Venencie, O. Boccara, D. Salvan, B. Faucon, N. Le Clerc, M. Borsik, A. Aymard, V. Civelli, E. Houdart, A. Bisdorff-Bresson","doi":"10.1097/jova.0000000000000017","DOIUrl":"https://doi.org/10.1097/jova.0000000000000017","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81326623","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 : 2021-11-24DOI: 10.1097/jova.0000000000000030
Ahmad Al-Huniti, Michelle Fantauzzi, Laura Willis, M. Sadlier, J. Amaral, M. Carcao
{"title":"Sirolimus Leads to Rapid Improvement in Fibroadipose Vascular Anomalies","authors":"Ahmad Al-Huniti, Michelle Fantauzzi, Laura Willis, M. Sadlier, J. Amaral, M. Carcao","doi":"10.1097/jova.0000000000000030","DOIUrl":"https://doi.org/10.1097/jova.0000000000000030","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"2006 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83035042","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 : 2021-10-29DOI: 10.1097/jova.0000000000000028
{"title":"Facing PHACE Twenty-five Years Later: Review and Perspectives on Management: Erratum","authors":"","doi":"10.1097/jova.0000000000000028","DOIUrl":"https://doi.org/10.1097/jova.0000000000000028","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"53 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85052133","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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