Böhler F K, Rhomberg W
Landeskrankenhaus Feldkirch, Abteilung für Radioonkologie, Osterreich.
Strahlenther Onkol. 1994 Nov;170(11):665-7.
Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue with abnormal quality and/or quantity of type 1 collagen. The frequency of the association of OI and breast cancer as well as the frequency of radiation induced side-effects in patients with OI are not known. Certain diseases with widespread collagen alterations such as systemic lupus erythematodes or dermatomyositis--although not exactly comparable to congenital OI--carry a high risk for radiation injuries in case of irradiation with normal doses. The report of a patient with osteogenesis imperfecta type I and postmastectomy irradiation might therefore be of some radiobiological interest.
Report of a 46-year-old women with OI type I and breast cancer with a 14-year follow-up time after mastectomy and external beam irradiation.
During all the follow-up time there was no radiation injury in this patient with OI type I and breast cancer.
Mostly it is not possible to draw a valid conclusion from a case report, but with this experience the combination of OI type I and radiotherapy seems not to cause unusual radiation injury. Contrary to OI of type II and III, in the majority of the cases of OI type I there is a normal quality, but diminished quantity of collagen type I. This could be one of the possible reasons for the absence of adverse radiation effects. Finally, it might be of interest, that the gene-locus of the two alpha-1(I)-chains of collagen type I is situated at chromosome 17q21-22, where also the location of the "breast-cancer gene" is supposed to be. A genetic examination was, unfortunately, refused by the patient.
成骨不全症（OI）是一种结缔组织遗传性疾病，其I型胶原蛋白的质量和/或数量异常。OI与乳腺癌的关联频率以及OI患者辐射诱发的副作用频率尚不清楚。某些具有广泛胶原蛋白改变的疾病，如系统性红斑狼疮或皮肌炎（尽管与先天性OI不完全可比），在接受正常剂量照射时发生辐射损伤的风险很高。因此，一名I型成骨不全症患者行乳房切除术后放疗的报告可能具有一定的放射生物学意义。
报告一名46岁患有I型OI和乳腺癌的女性，乳房切除术后外照射放疗，随访14年。
在整个随访期间，该I型OI和乳腺癌患者未出现辐射损伤。
大多数情况下，仅根据病例报告无法得出有效结论，但根据这一经验，I型OI与放疗联合似乎不会导致异常的辐射损伤。与II型和III型OI不同，大多数I型OI病例中I型胶原蛋白质量正常，但数量减少。这可能是未出现不良辐射效应的可能原因之一。最后，可能值得注意的是，I型胶原蛋白两条α-1（I）链的基因座位于17q21-22染色体上，“乳腺癌基因”也被认为位于该位置。遗憾的是，患者拒绝了基因检测。
