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

journal article Aug 21, 2024

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

Pediatric Blood & Cancer Vol. 71 No. 11 · Wiley

View at Publisher Save 10.1002/pbc.31282

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.

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References

Details

Published: Aug 21, 2024
Vol/Issue: 71(11)
License: View

Authors

A

Alexandra Zabeida

Division of Paediatric Haematology/Oncology Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada

J

Jack J. Brzezinski

Division of Paediatric Haematology/Oncology Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada

J

Jonathan D. Wasserman

Division of Endocrinology Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada

C

Cheryl Cytrynbaum

Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada

R

Rosanna Weksberg

Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada

K

Kelley Zwicker

Division of Community Pediatrics Department of Pediatrics Children's Hospital of Eastern Ontario University of Ottawa Ottawa Ontario Canada

K

Kevin Zbuk

Hamilton Health Sciences Division of Medical Oncology Department of Oncology McMaster University Hamilton Ontario Canada

A

Alessandro Gasparetto

Department of Diagnostic Imaging The Hospital for Sick Children University of Toronto Toronto Ontario Canada

L

Laura Willis

Division of Paediatric Haematology/Oncology Department of Nursing The Hospital for Sick Children University of Toronto Toronto Ontario Canada

M

Michelle Fantauzzi

Division of Paediatric Haematology/Oncology Department of Nursing The Hospital for Sick Children University of Toronto Toronto Ontario Canada

M

Manuel Carcao

Division of Paediatric Haematology/Oncology Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada

Cite This Article

Alexandra Zabeida, Jack J. Brzezinski, Jonathan D. Wasserman, et al. (2024). Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome. Pediatric Blood & Cancer, 71(11). https://doi.org/10.1002/pbc.31282

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

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