Sirolimus for vascular anomalies associated with <i>PTEN</i> hamartoma tumor syndrome-Reference-Cited by-同舟云学术

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

Published:2024-08-21 Issue: Volume: Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Zabeida Alexandra¹^ORCID,Brzezinski Jack J.¹^ORCID,Wasserman Jonathan D.²,Cytrynbaum Cheryl³,Weksberg Rosanna³,Zwicker Kelley⁴,Zbuk Kevin⁵,Gasparetto Alessandro⁶^ORCID,Willis Laura⁷,Fantauzzi Michelle⁷,Carcao Manuel¹

Affiliation:

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

Abstract

AbstractPhosphatase 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.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.31282

Reference11 articles.

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2. Genetic Basis and Therapies for Vascular Anomalies

3. Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation