Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Breast Cancer Res Treat. 2020 Jun;181(3):581-588. doi: 10.1007/s10549-020-05642-1. Epub 2020 Apr 24.
BRCA2 mutation carriers are offered annual breast screening with MRI and mammography. The aim of this study was to investigate the supplemental value of mammographic screening over MRI screening alone.
In this multicenter study, proven BRCA2 mutation carriers, who developed breast cancer during screening using both digital mammography and state-of-art breast MRI, were identified. Clinical data were reviewed to classify cases in screen-detected and interval cancers. Imaging was reviewed to assess the diagnostic value of mammography and MRI, using the Breast Imaging and Data System (BI-RADS) classification allocated at the time of diagnosis.
From January 2003 till March 2019, 62 invasive breast cancers and 23 ductal carcinomas in situ were diagnosed in 83 BRCA2 mutation carriers under surveillance. Overall screening sensitivity was 95.2% (81/85). Four interval cancers occurred (4.7% (4/85)). MRI detected 73 of 85 breast cancers (sensitivity 85.8%) and 42 mammography (sensitivity 49.9%) (p < 0.001). Eight mammography-only lesions occurred. In 1 of 17 women younger than 40 years, a 6-mm grade 3 DCIS, retrospectively visible on MRI, was detected with mammography only in a 38-year-old woman. The other 7 mammography-only breast cancers were diagnosed in women aged 50 years and older, increasing sensitivity in this subgroup from 79.5% (35/44) to 95.5% (42/44) (p ≤ 0.001).
In BRCA2 mutation carriers younger than 40 years, the benefit of mammographic screening over MRI was very small. In carriers of 50 years and older, mammographic screening contributed significantly. Hence, we propose to postpone mammographic screening in BRCA2 mutation carriers to at least age 40.
BRCA2 基因突变携带者每年接受 MRI 和乳房 X 线摄影筛查。本研究旨在探讨乳腺 X 线摄影筛查对 MRI 筛查的补充价值。
在这项多中心研究中，我们确定了在使用数字乳腺 X 线摄影和最先进的乳腺 MRI 进行筛查期间发生乳腺癌的 BRCA2 基因突变携带者。回顾临床数据以将病例分类为筛查检出和间隔期癌症。使用在诊断时分配的乳腺成像和数据系统 (BI-RADS) 分类来评估乳腺 X 线摄影和 MRI 的诊断价值。
从 2003 年 1 月至 2019 年 3 月，在接受监测的 83 名 BRCA2 基因突变携带者中，诊断出 62 例浸润性乳腺癌和 23 例导管原位癌。总体筛查敏感性为 95.2%（81/85）。发生 4 例间隔期癌症（4.7%（4/85））。MRI 检测到 85 例乳腺癌中的 73 例（敏感性 85.8%）和 42 例乳腺 X 线摄影（敏感性 49.9%）（p<0.001）。有 8 个仅在乳腺 X 线摄影上发现的病变。在 17 名年龄小于 40 岁的女性中，仅在 1 名 38 岁的女性中发现了 1 例 6mm 级 3 型 DCIS，该病变在 MRI 上可回溯性显示。其他 7 例仅在乳腺 X 线摄影上发现的乳腺癌均发生在 50 岁及以上的女性中，使该亚组的敏感性从 79.5%（35/44）提高到 95.5%（42/44）（p≤0.001）。
在 40 岁以下的 BRCA2 基因突变携带者中，乳腺 X 线摄影筛查的获益很小。在 50 岁及以上的携带者中，乳腺 X 线摄影筛查有重要贡献。因此，我们建议将 BRCA2 基因突变携带者的乳腺 X 线摄影筛查推迟至至少 40 岁。
