Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

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

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

Pediatr Blood Cancer. 2024 Nov;71(11):e31282. doi: 10.1002/pbc.31282. Epub 2024 Aug 21.

Affiliations

¹ Division of Paediatric Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
² Division of Endocrinology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
³ Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
⁴ Division of Community Pediatrics, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
⁵ Hamilton Health Sciences, Division of Medical Oncology, Department of Oncology, McMaster University, Hamilton, Ontario, Canada.
⁶ Department of Diagnostic Imaging, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
⁷ Division of Paediatric Haematology/Oncology, Department of Nursing, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

PMID: 39166269
DOI: 10.1002/pbc.31282

Abstract

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.

Keywords: PTEN hamartoma tumor syndrome; child; sirolimus; vascular anomalies.

MeSH terms

Adolescent
Blood Vessels / abnormalities
Blood Vessels / pathology
Child
Child, Preschool
Female
Follow-Up Studies
Hamartoma Syndrome, Multiple* / drug therapy
Hamartoma Syndrome, Multiple* / pathology
Humans
Male
Sirolimus* / adverse effects

Substances

Sirolimus