| Literature DB >> 24629322 |
A Ducournau1, P Lagarde1, B Henriques de Figueiredo1, M Antoine2, C Breton-Callu1, A Petit1, B Dallaudière3, P Sargos4.
Abstract
Osteogenesis imperfecta is an unusual disease also called Lobstein disease. Characterized by abnormalities of collagen biosynthesis, a possible mutation on 17th chromosome is described. On the other hand, 29% of breast cancers present a mutation on the same chromosome. Nevertheless, the association of osteogenesis imperfecta and breast cancer is at the moment unknown. Therapeutic management is very difficult because of a loss in dihydropyrimidine dehydrogenase for patients having osteogenesis imperfecta, generating some toxicity by default in catabolism of 5-fluorouracil. We report the case of a 49-year-old woman with a breast cancer in the context of osteogenesis imperfecta. Dosimetric considerations permitting to reduce chess dose level have been performed for this patient. With a follow-up of 6 months, no imaging fracture has been revealed after radiotherapy. No evident conclusion about radiation injury from a case report could be described in case of osteogenesis imperfecta. To our knowledge, this is the first case which take into account potential radiation induced toxicities.Entities:
Keywords: Breast neoplasm; Cancer du sein; Chemotherapy; Chimiothérapie; Lobstein disease; Maladie de Lobstein; Osteogenesis imperfecta; Ostéogenèse imparfaite; Radiation therapy; Radiothérapie
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Year: 2014 PMID: 24629322 DOI: 10.1016/j.canrad.2013.09.008
Source DB: PubMed Journal: Cancer Radiother ISSN: 1278-3218 Impact factor: 1.018