Department of Diagnostic Imaging, Chaim Sheba Medical Center, Israel; Sackler School of Medicine, Tel-Aviv University, Israel; Department of Oncology, Chaim Sheba Medical Center, Israel.
Department of Diagnostic Imaging, Chaim Sheba Medical Center, Israel; Sackler School of Medicine, Tel-Aviv University, Israel.
Clin Imaging. 2024 Dec;116:110310. doi: 10.1016/j.clinimag.2024.110310. Epub 2024 Oct 5.
In BRCA germline pathogenic sequence variants (PSV) carriers aged 30-39 years imaging is recommended at six-month intervals. The European society for medical oncology recommendation of the use of 6-monthly MRI six-monthly MRI screening is being considered at our institution, particularly for younger carriers under the age of 35, although it is not mandatory. If 6-monthly MRI is unavailable, annual MRI may be supplemented by ultrasound (with or without mammography). The aim of this study was to evaluate the utility of ultrasound screening added to mammography, as a 6-month supplement to annual MRI in BRCA PSV carriers aged 30-39 years.
This IRB approved retrospective study included BRCA PSV carriers aged 30-39 years, who underwent breast cancer screening at our institution between January 2015 and March 2023. Participants were divided into two groups, those who had supplemental whole-breast US and mammography at six months and underwent screening before March 2019, and those who had only mammography without supplemental US and enrolled in screening after March 2019. Patient characteristics, cancer detection rates and cancer characteristics were compared between the two groups.
Overall, 200 asymptomatic BRCA1/2 PSV carriers undergoing screening in our institution were included in the study. Mean age was 35.7 ± 3.5 years, and mean follow-up time was 37.4 ± 38.0 months. There were 118 (59 %) women screened with supplemental US, and 82 (41 %) women without. Eight cancers were diagnosed during the study period, four in women with supplemental US and four in women without. The sensitivity of whole-breast screening US was 25 % (1/4), specificity 85.7 % (222/259), PPV 2.6 % (1/38), and NPV 98.7 % (222/225). Of the four cancers detected in women screened with supplemental US, one was diagnosed by whole-breast US, two by MRI, and one by mammography. Of eight cancers included in this study, two were not detectable by targeted second-look US. All eight cancers were detectable by MRI.
The addition of whole-breast ultrasound to mammography and MRI screening in BRCA PSV carriers aged 30-39 years offered limited incremental benefit. MRI with 6 months supplemental mammography without US detected all cancer cases.
在年龄在 30-39 岁的 BRCA 种系致病性序列变异（PSV）携带者中，建议每 6 个月进行一次影像学检查。欧洲肿瘤内科学会建议在本机构使用每 6 个月进行一次 MRI 筛查，尤其是对于年龄在 35 岁以下的年轻携带者，尽管这不是强制性的。如果不能进行 6 个月的 MRI 检查，则可以每年通过超声（有或无乳房 X 线摄影）补充 MRI。本研究的目的是评估在 30-39 岁的 BRCA PSV 携带者中，将乳房 X 线摄影与超声筛查相结合作为每年 MRI 的 6 个月补充检查的实用性。
本研究经机构审查委员会批准，回顾性纳入 2015 年 1 月至 2023 年 3 月在本机构进行乳腺癌筛查的 BRCA PSV 携带者。参与者分为两组，一组在 6 个月时进行全乳超声和乳房 X 线摄影补充检查，在 2019 年 3 月之前进行筛查，另一组仅进行乳房 X 线摄影而无补充超声检查，在 2019 年 3 月之后进行筛查。比较两组间患者特征、癌症检出率和癌症特征。
本研究共纳入 200 名在本机构进行筛查的无症状 BRCA1/2 PSV 携带者。平均年龄为 35.7±3.5 岁，平均随访时间为 37.4±38.0 个月。其中 118 名（59%）女性接受了补充性全乳超声检查，82 名（41%）女性未接受。研究期间共诊断出 8 例癌症，其中 4 例在接受补充性全乳超声检查的女性中发现，4 例在未接受的女性中发现。全乳筛查超声的敏感性为 25%（1/4），特异性为 85.7%（222/259），阳性预测值为 2.6%（1/38），阴性预测值为 98.7%（222/225）。在接受补充性全乳超声检查的女性中，4 例癌症中有 1 例通过全乳超声检查、2 例通过 MRI 检查、1 例通过乳房 X 线摄影检查诊断。在本研究纳入的 8 例癌症中，有 2 例不能通过靶向性二次超声检查发现。所有 8 例癌症均能通过 MRI 检测到。
在 30-39 岁的 BRCA PSV 携带者中，将全乳超声检查与乳房 X 线摄影和 MRI 筛查联合应用的获益有限。每 6 个月进行一次 MRI 检查，辅以 6 个月的补充性乳房 X 线摄影，而不进行超声检查，可以发现所有的癌症病例。
