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Radiotherapy and Marfan syndrome: a report of two cases
M Finlay1, N Laperriere, R G Bristow
1Department of Radiation Oncology, Princess Margaret Hospital (University Health Network) and University of Toronto, Toronto, Ontario, Canada.
Abstract:
Marfan syndrome (MFS) is a heritable disorder of the connective tissue which has been linked to mutations in the FBN (fibrillin-1) gene. Murine knockouts of the FBN gene show increased interstitial fibrosis and TGF-beta (tumor growth factor-beta) gene activation. Abnormal TGF-beta expression has previously been linked to radiation-induced fibrosis, suggesting a possible link between MFS and increased late effects following radiotherapy. Herein we report two cases in which MFS patients treated with radical radiotherapy without undue acute or late radiotherapy toxicity suggesting that radiotherapy should not be withheld from MFS patients. MFS patients may provide a unique clinico-translational setting to test associations between FBN mutations, TGF-beta activation and the risk of tissue fibrosis.
Insights
Marfan syndrome patients with FBN gene mutations can safely undergo radiotherapy. This study suggests radiotherapy should not be withheld from MFS patients, offering insights into fibrosis risk.
Area of Science:
- Genetics and Molecular Biology
- Oncology
- Radiotherapy
Background:
- Marfan syndrome (MFS) is a genetic connective tissue disorder caused by FBN1 gene mutations.
- MFS is associated with increased interstitial fibrosis and TGF-beta activation in mouse models.
- Abnormal TGF-beta signaling is implicated in radiation-induced fibrosis.
Observation:
- Two Marfan syndrome patients received radical radiotherapy.
- Neither patient experienced significant acute or late radiotherapy toxicity.
Findings:
- Radiotherapy can be safely administered to Marfan syndrome patients.
- FBN1 mutations, TGF-beta activation, and fibrosis risk warrant further investigation in MFS.
Implications:
- Radiotherapy should not be contraindicated in Marfan syndrome patients.
- MFS patients offer a unique model for studying fibrosis mechanisms.
- This research may inform personalized radiotherapy strategies for MFS patients.
