Faermann Renata, Friedman Eitan, Kaidar-Person Orit, Brodsky Malka, Neiman Osnat Halshtok, Shalmon Anat, Gotlieb Michael, Yagil Yael, Samocha David, Feldman Dana Madorsky, Weidenfeld Jonathan, Sklair-Levy Miri
Meirav Center for Women's Health and High-Risk clinic (R.F., E.F., M.B., O.H.N, A.S., M.G., Y.Y., D.S., D.M.F., M.S.L.), Sheba Medical Center, Ramat Gan, Israel; Division of Diagnostic Imaging (R.F., O.H.N., A.S., M.G., Y.Y., D.S., M.S.L.), Sheba Medical Center, Ramat Gan, Israel; Department of Radiation Oncology (O.K.P.), Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine (R.F., E.F., O.K.P., O.H.N., A.S., M.G., Y.Y., D.S., D.M.F., M.S.L.), Tel-Aviv University, Tel- Aviv, Ramat Gan, Israel; Department of Pathology (J.W.), Sheba Medical Center, Ramat Gan, Israel.
Meirav Center for Women's Health and High-Risk clinic (R.F., E.F., M.B., O.H.N, A.S., M.G., Y.Y., D.S., D.M.F., M.S.L.), Sheba Medical Center, Ramat Gan, Israel; Division of Diagnostic Imaging (R.F., O.H.N., A.S., M.G., Y.Y., D.S., M.S.L.), Sheba Medical Center, Ramat Gan, Israel; Department of Radiation Oncology (O.K.P.), Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine (R.F., E.F., O.K.P., O.H.N., A.S., M.G., Y.Y., D.S., D.M.F., M.S.L.), Tel-Aviv University, Tel- Aviv, Ramat Gan, Israel; Department of Pathology (J.W.), Sheba Medical Center, Ramat Gan, Israel.
Acad Radiol. 2023 Feb;30(2):248-254. doi: 10.1016/j.acra.2022.03.030. Epub 2022 May 6.
Female carriers of pathogenic sequence variants (PSVs) in the BRCA1 /BRCA2 (Breast Cancer gene - BRCA) genes are at a substantially high-risk for developing breast cancer (BC), hence are offered active surveillance scheme based on semiannual breast exam and imaging from age 25 years to facilitate BC early detection (mammography/breast ultrasound depending on the age, and MRI). However, there are not specific guidelines for screening in case of pregnancy or lactation. In the current study, we summarize the experience at the largest high-risk clinic in Israel.
Data of consecutive BRCA-PSV carriers undergoing surveillance as well as diagnostic ultrasound at the Meirav high-risk clinic from January 2014 to 2021 who were pregnant and/or breastfeeding at time of follow-up were identified. Relevant clinical data including results of breast exam, breast ultrasonography, biopsies and histological results were retrieved. Percentage of biopsies with malignancy, cancer detection rate and positive predictive values were calculated. Data is presented in descriptive statistics.
A total of 263 BRCA-carriers were included. Of these, 593 breast-ultrasonograms were performed in 263 BRCA-carriers for 292 pregnancies and 409 breast-ultrasonograms for 175 breastfeeding carriers. Of 36 breast biopsies in 292 pregnancies, 4 (PPV = 11%) had BC diagnosed (high grade invasive). Of 175 breastfeeding women, 25 biopsies were performed and 2 (PPV = 8%) were high grade invasive BC. Five of 6 BC were diagnosed in BRCA1 carriers, and 4/6 were screen detected. The rate of pregnancy-associated breast cancer was 6/292 (2.05%).
The overall detection rate of pregnancy-associated BC in BRCA-carriers is relatively low (2.05%), but still much higher than that in the general population. Two thirds of the BC were detected by screening. Therefore, despite the changes of the glandular breast tissue at time of pregnancy and breastfeeding, screening plays an important role in early detection. Ultrasound should be considered as a screening tool during this period of life of high-risk patients.
携带BRCA1/BRCA2（乳腺癌基因 - BRCA）基因致病性序列变异（PSV）的女性患乳腺癌（BC）的风险极高，因此从25岁起就为她们提供基于半年一次乳房检查和影像学检查的主动监测方案，以促进乳腺癌的早期检测（根据年龄进行乳腺钼靶/乳房超声检查，以及MRI）。然而，对于怀孕或哺乳期的筛查尚无具体指南。在本研究中，我们总结了以色列最大的高危诊所的经验。
确定了2014年1月至2021年期间在Meirav高危诊所接受监测以及诊断性超声检查的连续BRCA-PSV携带者的数据，这些携带者在随访时处于怀孕和/或哺乳期。检索了相关临床数据，包括乳房检查结果、乳房超声检查结果、活检及组织学结果。计算了恶性活检的百分比、癌症检出率和阳性预测值。数据以描述性统计呈现。
共纳入263名BRCA携带者。其中，263名BRCA携带者因292次怀孕进行了593次乳房超声检查，175名哺乳期携带者进行了409次乳房超声检查。在292次怀孕中的36次乳房活检中，有4例（PPV = 11%）被诊断为乳腺癌（高级别浸润性）。在175名哺乳期妇女中，进行了25次活检，2例（PPV = 8%）为高级别浸润性乳腺癌。6例乳腺癌中有5例在BRCA1携带者中被诊断出，4/6是通过筛查发现的。妊娠相关乳腺癌的发生率为6/292（2.05%）。
BRCA携带者中妊娠相关乳腺癌的总体检出率相对较低（2.05%），但仍远高于普通人群。三分之二的乳腺癌是通过筛查发现的。因此，尽管怀孕和哺乳期乳腺组织会发生变化，但筛查在早期检测中起着重要作用。超声应被视为高危患者这一时期的筛查工具。
