Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

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

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

Alexandra Zabeida et al. Pediatr Blood Cancer. 2024 Nov.

. 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.

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References

REFERENCES

1. Eng C, Yehia L. PTEN hamartoma tumor syndrome. University of Washington, Seattle; 2021. Accessed February 21, 2024. https://www.ncbi.nlm.nih/gob/books/NBK1488/
1. Queisser A, Seront E, Boon LM, Vikkula M. Genetic basis and therapies for vascular anomalies. Circ Res. 2021;129(1):155‐173. doi:10.1161/CIRCRESAHA.121.318145
1. Triana P, Dore M, Cerezo VN, et al. Sirolimus in the treatment of vascular anomalies. Eur J Pediatr Surg. 2017;27(1):086‐090. doi:10.1055/s‐0036‐1593383
1. Adams DM, Trenor CC, Hammill AM, et al. Efficacy and safety of sirolimus in the treatment of complicated vascular anomalies. Pediatrics. 2016;137(2):e20153257. doi:10.1542/peds.2015‐3257
1. Iacobas I, Burrows PE, Adams DM, Sutton VR, Hollier LH, Chintagumpala MM. Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation. Pediatr Blood Cancer. 2011;57(2):321‐323. doi:10.1002/pbc.23098

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Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

Affiliations

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome

Authors

Affiliations

Abstract

References

REFERENCES

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous