Department of Obstetrics, Gynecology, and Women's Health, Obstetrics, Gynecology, Women's Health Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Department of Surgery, NorthShore University Health System, Evanston, Illinois, USA.
J Surg Oncol. 2022 Mar;125(4):589-595. doi: 10.1002/jso.26761. Epub 2021 Dec 2.
Screening for breast cancer in highly penetrant mutation carriers during pregnancy and lactation is challenging and consensus guidelines are lacking. This study evaluates the lapse in screening and the interval pregnancy-associated breast cancer rate.
A single-institution retrospective cohort study of pregnant and lactating patients with known pathogenic germline mutations was performed. Lapse in screening was defined as the interval between the last screening imaging exam obtained before last menstrual period and the subsequent screening imaging.
Out of 685 patients, 42 had 1-3 evaluable pregnancies (54 total - 28 managed in High Risk Breast Clinic and 26 by OB/GYN). Mutations were observed in patients in BRCA1 (49%), BRCA2 (36%), CDH1 (5%), CHEK2 (2%), ATM (2%), NF1 (3%), and MSH2 (3%). The average screening lapse was 25 [19, 30] months for patients followed in the High Risk Clinic versus 32.5 [21, 65.75] months for patients followed with Routine Care (p = 0.035). We identified three cases of pregnancy-associated breast cancer (interval cancer rate 6%).
Patients with highly penetrant mutations are at risk for the development of interval pregnancy-associated breast cancer. Development of consistent screening guidelines and adherence to those guidelines is needed for this patient population.
在妊娠和哺乳期对高外显率突变携带者进行乳腺癌筛查具有挑战性，且目前缺乏共识指南。本研究评估了筛查中断情况和与妊娠相关的乳腺癌间隔发生率。
对一家机构的已知致病性种系突变的妊娠和哺乳期患者进行了单中心回顾性队列研究。筛查中断定义为末次月经前最后一次筛查影像学检查与随后的筛查影像学检查之间的间隔。
在 685 名患者中，有 42 名患者有 1-3 次可评估的妊娠（共 54 例，其中 28 例在高危乳腺诊所管理，26 例由妇产科医生管理）。观察到 BRCA1（49%）、BRCA2（36%）、CDH1（5%）、CHEK2（2%）、ATM（2%）、NF1（3%）和 MSH2（3%）的突变。在高危诊所就诊的患者中，平均筛查间隔为 25 [19, 30] 个月，而在常规护理就诊的患者中为 32.5 [21, 65.75] 个月（p=0.035）。我们发现了 3 例与妊娠相关的乳腺癌（间隔癌发生率为 6%）。
高外显率突变的患者有发生间隔妊娠相关乳腺癌的风险。需要为这一患者群体制定一致的筛查指南并遵守这些指南。
