Department of Orthopedic Surgery, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Section on Skeletal Disorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, USA.
J Bone Miner Res. 2018 Jan;33(1):84-90. doi: 10.1002/jbmr.3286. Epub 2017 Sep 20.
Fibrous dysplasia (FD) is a rare bone disorder caused by mutations of the GNAS gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia cohorts from the Netherlands and the United States. Data on fibrous dysplasia and breast cancer diagnosis were retrieved from hospital records of 134 (Netherlands) and 121 (US) female patients. Results were validated with breast cancer data of 645 female fibrous dysplasia patients from the Dutch Pathology Registry (PALGA). Standardized morbidity ratios for breast cancer were estimated with data from Dutch and US general population registries. GNAS mutation was analyzed in 9 available breast cancer specimens. A combined total of 15 patients (6 polyostotic, 9 McCune-Albright Syndrome) had breast cancer (87% thoracic localizations). In the Netherlands, a breast cancer incidence rate of 7.5% at median age of 46 years was validated in PALGA (6.5% at age 51 years). Breast cancer risk was 3.4-fold increased (95% confidence interval [CI] 1.6-5.9) compared with the Dutch general population; OR 13.2-fold (95% CI 6.2-22.8) in thoracic disease. In the US cohort, breast cancer incidence rate was 4.5% at a median age of 36 years. Breast cancer risk was 3.9-fold increased (95% CI 1.2-8.2) compared with the general population; 5.7-fold (95% CI 1.4-13.0) in thoracic disease. GNAS mutation was positive in 4 breast cancer specimens (44%). Risk of breast cancer is increased at a younger age, particularly in polyostotic FD, suggesting that screening for breast cancer should be considered in this particular group at a younger age than currently advocated by national guidelines. © 2017 American Society for Bone and Mineral Research.
纤维发育不良（FD）是一种罕见的骨骼疾病，由 GNAS 基因突变引起，这些突变也存在于恶性肿瘤中。我们探索了纤维发育不良两个队列（荷兰和美国）中乳腺癌与纤维发育不良之间的潜在关系。从 134 名（荷兰）和 121 名（美国）女性患者的医院记录中检索纤维发育不良和乳腺癌诊断的数据。结果与荷兰病理学登记处（PALGA）的 645 名女性纤维发育不良患者的乳腺癌数据进行了验证。使用荷兰和美国普通人群登记处的数据估计了乳腺癌的标准化发病比。分析了 9 例可获得的乳腺癌标本中的 GNAS 突变。共有 15 名患者（6 例多骨型，9 例 McCune-Albright 综合征）患有乳腺癌（87%为胸壁局部病变）。在荷兰，PALGA 验证了中位年龄为 46 岁时的乳腺癌发病率为 7.5%（51 岁时为 6.5%）。与荷兰普通人群相比，乳腺癌风险增加了 3.4 倍（95%置信区间[CI] 1.6-5.9）；胸壁疾病的 OR 为 13.2 倍（95%CI 6.2-22.8）。在美国队列中，中位年龄为 36 岁时乳腺癌发病率为 4.5%。与普通人群相比，乳腺癌风险增加了 3.9 倍（95%CI 1.2-8.2）；胸壁疾病的 OR 为 5.7 倍（95%CI 1.4-13.0）。4 例乳腺癌标本（44%）中 GNAS 突变阳性。乳腺癌的发病风险在较年轻时增加，尤其是在多骨型 FD 中，这表明应比目前的国家指南建议的年龄更早，考虑对该特定群体进行乳腺癌筛查。 © 2017 美国骨骼与矿物质研究协会。
