Ducournau A, Lagarde P, Henriques de Figueiredo B, Antoine M, Breton-Callu C, Petit A, Dallaudière B, Sargos P
Département de radiothérapie, institut Bergonié, centre régional de lutte contre le cancer, 229, cours de l'Argonne, 33076 Bordeaux cedex, France.
Unité de physique médicale, institut Bergonié, centre régional de lutte contre le cancer, 229, cours de l'Argonne, 33076 Bordeaux cedex, France.
Cancer Radiother. 2014 Mar;18(2):132-5. doi: 10.1016/j.canrad.2013.09.008. Epub 2014 Mar 11.
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.
成骨不全是一种罕见疾病，也被称为洛布斯坦病。其特征为胶原蛋白生物合成异常，有报道称可能存在第17号染色体的突变。另一方面，29%的乳腺癌患者该染色体存在突变。然而，目前尚不清楚成骨不全与乳腺癌之间的关联。由于成骨不全患者二氢嘧啶脱氢酶缺失，5-氟尿嘧啶分解代谢时会默认产生一些毒性，因此治疗管理非常困难。我们报告了一例49岁患有成骨不全并伴有乳腺癌的女性病例。已对该患者进行了剂量测定考量以降低照射剂量水平。随访6个月后，放疗后未发现影像学骨折。对于成骨不全病例，从一份病例报告中无法得出关于辐射损伤的明确结论。据我们所知，这是首例考虑潜在辐射诱导毒性的病例。
