Alexandra Zabeida, Jack J. Brzezinski, Jonathan D. Wasserman, Cheryl Cytrynbaum, Rosanna Weksberg, Kelley Zwicker, Kevin Zbuk, Alessandro Gasparetto, Laura Willis, Michelle Fantauzzi, Manuel Carcao
{"title":"西罗莫司治疗与PTEN hamartoma肿瘤综合征相关的血管异常。","authors":"Alexandra Zabeida, Jack J. Brzezinski, Jonathan D. Wasserman, Cheryl Cytrynbaum, Rosanna Weksberg, Kelley Zwicker, Kevin Zbuk, Alessandro Gasparetto, Laura Willis, Michelle Fantauzzi, Manuel Carcao","doi":"10.1002/pbc.31282","DOIUrl":null,"url":null,"abstract":"<p>Phosphatase and tensin homolog (<i>PTEN</i>) hamartoma tumor syndrome (PHTS) is a rare condition associated with vascular anomalies and increased tumor risk. Sirolimus, an mTOR inhibitor used for managing vascular anomalies is underexplored in PHTS. A single-institution retrospective review of children with PHTS and vascular anomalies treated with sirolimus identified seven patients. Median age at sirolimus initiation was 10 years. After a median 2.5-year follow-up, six of seven patients (86%) showed significant clinical improvement. No significant adverse effects were observed, except mild buccal ulcers and acne. This study supports sirolimus as an effective and safe treatment for vascular anomalies in a small group of children with PHTS.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4000,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome\",\"authors\":\"Alexandra Zabeida, Jack J. Brzezinski, Jonathan D. Wasserman, Cheryl Cytrynbaum, Rosanna Weksberg, Kelley Zwicker, Kevin Zbuk, Alessandro Gasparetto, Laura Willis, Michelle Fantauzzi, Manuel Carcao\",\"doi\":\"10.1002/pbc.31282\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Phosphatase and tensin homolog (<i>PTEN</i>) hamartoma tumor syndrome (PHTS) is a rare condition associated with vascular anomalies and increased tumor risk. Sirolimus, an mTOR inhibitor used for managing vascular anomalies is underexplored in PHTS. A single-institution retrospective review of children with PHTS and vascular anomalies treated with sirolimus identified seven patients. Median age at sirolimus initiation was 10 years. After a median 2.5-year follow-up, six of seven patients (86%) showed significant clinical improvement. No significant adverse effects were observed, except mild buccal ulcers and acne. This study supports sirolimus as an effective and safe treatment for vascular anomalies in a small group of children with PHTS.</p>\",\"PeriodicalId\":19822,\"journal\":{\"name\":\"Pediatric Blood & Cancer\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-08-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Blood & Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/pbc.31282\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Blood & Cancer","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/pbc.31282","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome
Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a rare condition associated with vascular anomalies and increased tumor risk. Sirolimus, an mTOR inhibitor used for managing vascular anomalies is underexplored in PHTS. A single-institution retrospective review of children with PHTS and vascular anomalies treated with sirolimus identified seven patients. Median age at sirolimus initiation was 10 years. After a median 2.5-year follow-up, six of seven patients (86%) showed significant clinical improvement. No significant adverse effects were observed, except mild buccal ulcers and acne. This study supports sirolimus as an effective and safe treatment for vascular anomalies in a small group of children with PHTS.
期刊介绍:
Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.