Meirav Center for Women's Health and High-Risk Clinic, Sheba Medical Center, Ramat Gan, Israel.
Division of Diagnostic Imaging, Sheba Medical Center, Ramat Gan, Affiliated with the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Breast J. 2022 Oct 27;2022:4317693. doi: 10.1155/2022/4317693. eCollection 2022.
While pathogenic sequence variants (PSVs) clearly confer an increased risk for invasive breast cancer, the extent to which these mutant alleles increase DCIS risk is less clear.
To assess the rate of detection over a 5-year period, and MRI imaging features of pure noncalcified DCIS in a cohort of Israeli PSV carriers attending a high-risk clinic from 2015 to 2020.
All female PSV-carriers followed at the Meirav High-risk clinic from 2015 to 2020 were eligible if they underwent semiannual breast imaging (MRI/mammography) and MRI-guided biopsy-proven pure DCIS. Clinical data, pathology information, and imaging characteristics were retrieved from the computerized archiving system.
18/121 (15.2%) participating PSV carriers and 8/81 (10.1%) PSV-carriers who underwent MRI-guided biopsy were diagnosed with DCIS. The median age of carriers and carriers was 49.8 years and 60.6 years, respectively ( = 0.55). Negative estrogen-receptor tumors were diagnosed in 13/18 (72%) and 2/8 (25%) PSV carriers ( < 0.05). Thirteen (13/18-72%) carriers had intermediate to high-grade or high-grade DCIS compared with 4/8 (50%) of carriers ( = 0.03). Over the 5-year study period, 29/1100 (2.6%) PSV carriers were diagnosed with DCIS seen on MRI only.
MRI-detected noncalcified DCIS is more frequent in PSV carriers compared with carriers, unlike the predominance in mammography-detected calcified DCIS. -related DCIS is diagnosed earlier, more likely to be estrogen receptor-negative and of higher grade compared with -related DCIS. Future prospective studies should validate these results and assess the actual impact they might have on clinical management of PSV carriers.
虽然致病性序列变异（PSV）显然会增加浸润性乳腺癌的风险，但这些突变等位基因增加 DCIS 风险的程度尚不清楚。
评估 2015 年至 2020 年期间在以色列 PSV 携带者高风险诊所就诊的队列中，5 年内检测到的纯非钙化性 DCIS 的频率以及 MRI 成像特征。
所有在 Meirav 高风险诊所就诊的 PSV 携带者，如果接受了半年一次的乳房成像（MRI/乳房 X 线摄影）和 MRI 引导的活检证实为纯 DCIS，则符合条件。从计算机归档系统中检索临床数据、病理学信息和影像学特征。
18/121（15.2%）接受 MRI 引导活检的 PSV 携带者和 8/81（10.1%）PSV 携带者被诊断为 DCIS。携带者和非携带者的中位年龄分别为 49.8 岁和 60.6 岁（=0.55）。阴性雌激素受体肿瘤在 13/18（72%）和 2/8（25%）PSV 携带者中被诊断（<0.05）。与 4/8（50%）PSV 携带者相比，13 名（13/18-72%）携带者的 DCIS 为中高级或高级（=0.03）。在 5 年的研究期间，1100 名 PSV 携带者中有 29 名（2.6%）仅在 MRI 上诊断出 DCIS。
与在乳房 X 线摄影中检测到的钙化性 DCIS 相比，PSV 携带者的 MRI 检测到的非钙化性 DCIS 更为常见。与 PSV 相关的 DCIS 更早被诊断出来，与 PSV 相关的 DCIS 更有可能为雌激素受体阴性且级别更高。未来的前瞻性研究应验证这些结果，并评估它们对 PSV 携带者临床管理的实际影响。
