Zabeida Alexandra, Brzezinski Jack J, Wasserman Jonathan D, Cytrynbaum Cheryl, Weksberg Rosanna, Zwicker Kelley, Zbuk Kevin, Gasparetto Alessandro, Willis Laura, Fantauzzi Michelle, Carcao Manuel
Division of Paediatric Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Division of Endocrinology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Pediatr Blood Cancer. 2024 Nov;71(11):e31282. doi: 10.1002/pbc.31282. Epub 2024 Aug 21.
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.
磷酸酶和张力蛋白同源物（PTEN）错构瘤肿瘤综合征（PHTS）是一种与血管异常和肿瘤风险增加相关的罕见病症。西罗莫司是一种用于治疗血管异常的mTOR抑制剂，在PHTS中的研究较少。一项对接受西罗莫司治疗的PHTS和血管异常患儿的单机构回顾性研究确定了7例患者。开始使用西罗莫司时的中位年龄为10岁。经过中位2.5年的随访，7例患者中有6例（86%）显示出显著的临床改善。除了轻度口腔溃疡和痤疮外，未观察到明显的不良反应。本研究支持西罗莫司作为一小部分患有PHTS的儿童血管异常的有效且安全的治疗方法。
