Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers.

IF 1.9 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Breast Journal Pub Date : 2022-01-01 DOI:10.1155/2022/4317693
Renata Faermann, Eitan Friedman, Orit Kaidar-Person, Jonathan Weidenfeld, Malka Brodsky, Anat Shalmon, Osnat Halshtok Neiman, Michael Gotlieb, Yael Yagil, David Samoocha, Dana Madorsky Feldman, Miri Sklair-Levy
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引用次数: 2

Abstract

Background: While BRCA1/BRCA2 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.

Objective: To assess the rate of detection over a 5-year period, and MRI imaging features of pure noncalcified DCIS in a cohort of Israeli BRCA1/BRCA2 PSV carriers attending a high-risk clinic from 2015 to 2020.

Materials and methods: All female BRCA1/BRCA2 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.

Results: 18/121 (15.2%) participating BRCA1 PSV carriers and 8/81 (10.1%) BRCA2 PSV-carriers who underwent MRI-guided biopsy were diagnosed with DCIS. The median age of BRCA1 carriers and BRCA2 carriers was 49.8 years and 60.6 years, respectively (p = 0.55). Negative estrogen-receptor tumors were diagnosed in 13/18 (72%) BRCA1 and 2/8 (25%) BRCA2 PSV carriers (p < 0.05). Thirteen (13/18-72%) BRCA1 carriers had intermediate to high-grade or high-grade DCIS compared with 4/8 (50%) of BRCA2 carriers (p = 0.03). Over the 5-year study period, 29/1100 (2.6%) BRCA1/BRCA2 PSV carriers were diagnosed with DCIS seen on MRI only.

Conclusion: MRI-detected noncalcified DCIS is more frequent in BRCA1 PSV carriers compared with BRCA2 carriers, unlike the BRCA2 predominance in mammography-detected calcified DCIS. BRCA1-related DCIS is diagnosed earlier, more likely to be estrogen receptor-negative and of higher grade compared with BRCA2-related DCIS. Future prospective studies should validate these results and assess the actual impact they might have on clinical management of BRCA PSV carriers.

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BRCA1/BRCA2突变携带者mri引导活检诊断导管原位癌(DCIS)
背景:虽然BRCA1/BRCA2致病序列变异(psv)明显增加了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。目的:评估2015年至2020年在高风险诊所就诊的以色列BRCA1/BRCA2 PSV携带者队列中纯非钙化DCIS的5年检出率和MRI影像学特征。材料和方法:2015年至2020年在Meirav高危诊所随访的所有女性BRCA1/BRCA2 psv携带者,如果他们每半年进行一次乳房成像(MRI/乳房x光检查)和MRI引导活检证实的纯DCIS,则符合条件。临床资料、病理信息和影像学特征从计算机存档系统中检索。结果:接受mri引导活检的18/121 (15.2%)BRCA1 PSV携带者和8/81 (10.1%)BRCA2 PSV携带者被诊断为DCIS。BRCA1携带者和BRCA2携带者的中位年龄分别为49.8岁和60.6岁(p = 0.55)。BRCA1携带者中13/18(72%)和BRCA2 PSV携带者中2/8(25%)被诊断为阴性雌激素受体肿瘤(p < 0.05)。13名BRCA1携带者(13/18-72%)患有中度至高度或高度DCIS,而4/8名BRCA2携带者(50%)患有中度至高度DCIS (p = 0.03)。在5年的研究期间,29/1100 (2.6%)BRCA1/BRCA2 PSV携带者仅在MRI上被诊断为DCIS。结论:mri检测到的非钙化DCIS在BRCA1 PSV携带者中比在BRCA2携带者中更常见,这与乳房x线摄影检测到的钙化DCIS中BRCA2的优势不同。与brca2相关的DCIS相比,brca1相关的DCIS诊断更早,雌激素受体阴性的可能性更大,分级更高。未来的前瞻性研究应该验证这些结果,并评估它们可能对BRCA PSV携带者的临床管理产生的实际影响。
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来源期刊
Breast Journal
Breast Journal 医学-妇产科学
CiteScore
4.00
自引率
0.00%
发文量
47
审稿时长
4-8 weeks
期刊介绍: The Breast Journal is the first comprehensive, multidisciplinary source devoted exclusively to all facets of research, diagnosis, and treatment of breast disease. The Breast Journal encompasses the latest news and technologies from the many medical specialties concerned with breast disease care in order to address the disease within the context of an integrated breast health care. This editorial philosophy recognizes the special social, sexual, and psychological considerations that distinguish cancer, and breast cancer in particular, from other serious diseases. Topics specifically within the scope of The Breast Journal include: Risk Factors Prevention Early Detection Diagnosis and Therapy Psychological Issues Quality of Life Biology of Breast Cancer.
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