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 wit...

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Bibliographic Details
Published in:Pediatric blood & cancer 2024-11, Vol.71 (11), p.e31282-n/a
Main Authors: Zabeida, Alexandra, Brzezinski, Jack J., Wasserman, Jonathan D., Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwicker, Kelley, Zbuk, Kevin, Gasparetto, Alessandro, Willis, Laura, Fantauzzi, Michelle, Carcao, Manuel
Format: Article
Language:English
Subjects:
Acne
child
Neoplasia
Patients
PTEN hamartoma tumor syndrome
PTEN protein
Rapamycin
sirolimus
TOR protein
Tumors
Ulcers
vascular anomalies
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Summary: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.
ISSN:1545-5009
1545-5017
1545-5017
DOI:10.1002/pbc.31282