Sirolimus for vascular anomalies associated with <i>PTEN</i> 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.
Authors
- Jack Brzezinski (ORCID: https://orcid.org/0000-0002-9475-0077)
- Alexandra Zabeida (ORCID: https://orcid.org/0000-0001-5059-1572)
- Cheryl Cytrynbaum (ORCID: https://orcid.org/0000-0002-3742-1250)
- Kelley Zwicker
- Jonathan D. Wasserman (ORCID: https://orcid.org/0000-0001-7088-8146)
- Kevin Zbuk (ORCID: https://orcid.org/0000-0001-6628-2467)
- Manuel Carção (ORCID: https://orcid.org/0000-0001-5350-1763)
- A Gasparetto (ORCID: https://orcid.org/0000-0003-4704-6762)
- Michelle Fantauzzi
- Laura B. Willis
- Rosanna Weksberg
Institutions
- University of Ottawa (CA)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- McMaster University Medical Centre (CA)
- Hospital for Sick Children (CA)
- SickKids Foundation (CA)
- Hamilton Health Sciences (CA)
- McMaster University (CA)
Publication Details
- Journal
- Pediatric Blood & Cancer
- Published
- 2024-08-21
- DOI
- https://doi.org/10.1002/pbc.31282
- Citations
- 5
- Primary Topic
- Vascular Malformations and Hemangiomas
- Type
- article
- Field-Weighted Citation Impact
- 2.86