Bick Ulrich
Department of Radiology, Charité Berlin, Germany.
Breast Care (Basel). 2015 Feb;10(1):13-20. doi: 10.1159/000375390.
Efforts for early detection of breast cancer play an important role in the care of high-risk women. This will include both women with a pathological mutation in one of the known breast cancer susceptibility genes as well as women with a high breast cancer risk based on family history only. Due to the much higher incidence of breast cancer in premenopausal women with a genetic predisposition or a familial background, to be most effective, imaging-based breast surveillance should start at an age as early as 25-30 years. There is now ample evidence that magnetic resonance imaging (MRI) is by far the most sensitive imaging modality in young high-risk women. With high-risk multimodality screening at least 30% of breast cancers will be detected primarily by MRI and would have been missed at regular screening without MRI. Therefore, most high-risk breast surveillance programs now offer annual MRI to eligible high-risk women from age 25 to 30, usually supplemented by regular mammography starting at least from age 40. The inclusion of clinical breast exam (CBE) and/or ultrasound in the high-risk surveillance has little impact on the detection of additional cancers, but may improve compliance and reduce unnecessary callbacks for nonspecific findings on MRI. To reduce advanced stage interval cancers, especially in BRCA1/2 mutation carriers, some programs offer additional semiannual CBE and/or ultrasound or alternate MRI and mammography every 6 months. How long regular MRI should be continued in high-risk women is a matter of considerable debate. It appears feasible that MRI can safely be discontinued even in BRCA1/2 mutation carriers between the age of 60 and 70, especially if mammographic breast density is low. Even though several cohort studies have now demonstrated a very favorable stage distribution of breast cancers found in women undergoing high-risk surveillance with MRI, data on long-term survival and mortality in these patients is still rare.
乳腺癌早期检测工作在高危女性的护理中发挥着重要作用。这包括在已知的乳腺癌易感基因之一中存在病理性突变的女性，以及仅基于家族病史而具有高乳腺癌风险的女性。由于具有遗传易感性或家族背景的绝经前女性乳腺癌发病率要高得多，为了达到最佳效果，基于成像的乳房监测应早在25至30岁时就开始。现在有充分的证据表明，磁共振成像（MRI）是年轻高危女性中迄今为止最敏感的成像方式。通过高危多模态筛查，至少30%的乳腺癌将主要通过MRI检测到，而在没有MRI的常规筛查中这些癌症将会被漏诊。因此，现在大多数高危乳房监测项目为25至30岁符合条件的高危女性提供每年一次的MRI检查，通常至少从40岁开始辅以常规乳腺钼靶检查。在高危监测中纳入临床乳房检查（CBE）和/或超声检查对额外癌症的检测影响不大，但可能会提高依从性并减少因MRI上的非特异性发现而进行的不必要回访。为了减少晚期间期癌症，特别是在BRCA1/2突变携带者中，一些项目提供额外的每半年一次的CBE和/或超声检查，或每6个月交替进行MRI和乳腺钼靶检查。高危女性应持续进行常规MRI检查多长时间是一个备受争议的问题。即使在60至70岁之间的BRCA1/2突变携带者中，停止MRI检查似乎也是可行的，特别是如果乳腺钼靶检查显示乳房密度较低。尽管现在有几项队列研究已经证明，在接受MRI高危监测的女性中发现的乳腺癌具有非常良好的分期分布，但这些患者的长期生存和死亡率数据仍然很少。
