Radiotherapy and Marfan syndrome: A report of two cases

M. Finlay, N. Laperriere, Robert G. Bristow

Research output: Contribution to journalArticlepeer-review


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-β (tumor growth factor-beta) gene activation. Abnormal TGF-β 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-β activation and the risk of tissue fibrosis.

Original languageEnglish
Pages (from-to)54-56
Number of pages3
JournalClinical Oncology
Issue number1
Publication statusPublished - Feb 2005


  • Marfan syndrome
  • Radiotherapy late effects
  • Translational radiobiology


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